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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:
CA2675882464
Gene: ADRB2
HGNC
NCBI
Linked Data
gnomAD v4:
5-148826704-CCACCACACCCA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148826712_148826722del , CM000667.2:g.148826712_148826722del
GRCh38
NC_000005.9:g.148206275_148206285del , CM000667.1:g.148206275_148206285del
GRCh37
NC_000005.8:g.148186468_148186478del
NCBI36
NG_016421.1:g.5120_5130del
NG_016421.2:g.5120_5130del
Transcript Alleles
HGVS
Amino-acid change
ENST00000305988.6:c.-120_-110del
MANE Select
ENSP00000305372.4:n.-120_-110del
ENST00000305988.5:c.-120_-110del
ENSP00000305372.4:n.-120_-110del
NM_000024.5:c.-120_-110del
NP_000015.1:n.-120_-110del
NM_000024.6:c.-120_-110del
MANE Select
NP_000015.2:n.-120_-110del
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