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: PA2827786934

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 954734

ClinVar RCV Id: RCV001227247 RCV002249814

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Asn1817Thr	CA349065570 NM_001353958.2:c.5450A>C