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: PA2827788924

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1072727

ClinVar RCV Id: RCV001385512

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Phe1260del	CA2580614386 NM_001353960.2:c.3780_3782del