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: PA2827776889

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68530

ClinVar RCV Id: RCV000059403 RCV000818870 RCV002054912

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Leu1195Pro	CA284925 NM_001353954.2:c.3584T>C