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: PA915967950

Gene: ACTB HGNC NCBI

Linked Data

ClinVar Variation Id: 636913

ClinVar RCV Id: RCV000788880

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092.1:p.Ile192Asn	CA366702703 NM_001101.5:c.575T>A