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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:
CA2675882450
Gene: ADRB2
HGNC
NCBI
Linked Data
gnomAD v4:
5-148826694-GGAC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148826697_148826699del , CM000667.2:g.148826697_148826699del
GRCh38
NC_000005.9:g.148206260_148206262del , CM000667.1:g.148206260_148206262del
GRCh37
NC_000005.8:g.148186453_148186455del
NCBI36
NG_016421.1:g.5105_5107del
NG_016421.2:g.5105_5107del
Transcript Alleles
HGVS
Amino-acid change
ENST00000305988.6:c.-135_-133del
MANE Select
ENSP00000305372.4:n.-135_-133del
ENST00000305988.5:c.-135_-133del
ENSP00000305372.4:n.-135_-133del
NM_000024.5:c.-135_-133del
NP_000015.1:n.-135_-133del
NM_000024.6:c.-135_-133del
MANE Select
NP_000015.2:n.-135_-133del
Search 100 bp 5'
Search 100 bp 3'