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: PA317563

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206854

ClinVar RCV Id: RCV000188988

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Arg1637Leu	CA317561 NM_006920.6:c.4910G>T