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: PA2826260385

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2752271

ClinVar RCV Id: RCV003589992

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Ser1690Pro	CA349069400 NM_001202435.3:c.5068T>C