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: PA2827780791

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1745814

ClinVar RCV Id: RCV002338406

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Gly1713_Trp1714del	CA2580064420 NM_001353955.2:c.5138_5143del