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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:
CA2610910188
Gene: ADRA2A
HGNC
NCBI
Linked Data
gnomAD v4:
10-111079521-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.111079521C>A , CM000672.2:g.111079521C>A
GRCh38
NC_000010.10:g.112839279C>A , CM000672.1:g.112839279C>A
GRCh37
NC_000010.9:g.112829269C>A
NCBI36
NG_012020.1:g.7490C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000280155.4:c.*127C>A
MANE Select
ENSP00000280155.2:n.*127C>A
ENST00000280155.3:c.*127C>A
ENSP00000280155.2:n.*127C>A
NM_000681.3:c.*127C>A
NP_000672.3:n.*127C>A
NM_000681.4:c.*127C>A
MANE Select
NP_000672.3:n.*127C>A
Search 100 bp 5'
Search 100 bp 3'