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: PA2827784341

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 423370

ClinVar RCV Id: RCV000481610 RCV001262228 RCV001851250

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Leu117Pro	CA16617318 NM_001353958.2:c.350T>C