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: PA645407694

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 422520

ClinVar RCV Id: RCV000479012

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_066287.2:p.Val1215Phe