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: PA2827768217

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 546874

ClinVar RCV Id: RCV000658882

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Trp1801Cys	CA349067580 NM_001353950.2:c.5403G>T CA349067582 NM_001353950.2:c.5403G>C