Allele Registry

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.

Canonical Allele Identifier: PA2826895156

Gene: PRKAG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 6849

ClinVar RCV Id: RCV000007252 RCV000211739 RCV004528089

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001291456.1:p.Thr275Asn	CA013659 NM_001304527.2:c.824C>A