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: PA107870

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68624

ClinVar RCV Id: RCV000059502 RCV001385513

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Leu1287Pro	CA285150 NM_001165963.4:c.3860T>C