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: PA2827778011

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2443596

ClinVar RCV Id: RCV003152203

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Pro1830Leu	CA349065614 NM_001353954.2:c.5489C>T