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: PA284966

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68545

ClinVar RCV Id: RCV000059419

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Tyr1451Cys	CA284964 NM_006920.6:c.4352A>G