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: PA2826009379

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1045626

ClinVar RCV Id: RCV001350071

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.His553Tyr	CA349068240 NM_001165963.4:c.1657C>T