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: PA2827777866

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2010295

ClinVar RCV Id: RCV002850993 RCV003326639

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Ser1748Pro	CA349068302 NM_001353954.2:c.5242T>C