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: PA2826010373

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1403815

ClinVar RCV Id: RCV001901322

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Ala1429Val	CA349049642 NM_001165963.4:c.4286C>T