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: PA2829676363

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 845338

ClinVar RCV Id: RCV001048383

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Phe1681Ile	CA349069369 NM_006920.6:c.5041T>A