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: PA2827941001

Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 819305

ClinVar RCV Id: RCV001011744 RCV002551749

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341824.1:p.His492Arg	CA16024536 NM_001354895.2:c.1475A>G