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: PA2827789693

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_001340889.1:p.Gly1696_Trp1697del	CA2580064420 NM_001353960.2:c.5087_5092del