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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2675882476
Gene: ADRB2
HGNC
NCBI
Linked Data
gnomAD v4:
5-148826715-A-ACAG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148826717_148826718insGCA , CM000667.2:g.148826717_148826718insGCA
GRCh38
NC_000005.9:g.148206280_148206281insGCA , CM000667.1:g.148206280_148206281insGCA
GRCh37
NC_000005.8:g.148186473_148186474insGCA
NCBI36
NG_016421.1:g.5125_5126insGCA
NG_016421.2:g.5125_5126insGCA
Transcript Alleles
HGVS
Amino-acid Change
ENST00000305988.6:c.-115_-114insGCA
MANE Select
ENSP00000305372.4:n.-115_-114insGCA
ENST00000305988.5:c.-115_-114insGCA
ENSP00000305372.4:n.-115_-114insGCA
NM_000024.5:c.-115_-114insGCA
NP_000015.1:n.-115_-114insGCA
NM_000024.6:c.-115_-114insGCA
MANE Select
NP_000015.2:n.-115_-114insGCA
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