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: PA645405104

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 420677

ClinVar RCV Id: RCV000479372

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Pro1759Ser	CA16617281 NM_001165963.4:c.5275C>T