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: PA916036641

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12887

ClinVar RCV Id: RCV000013747 RCV000059402 RCV001091670

ClinVar Variation Id: 3067167

ClinVar RCV Id: RCV003992856

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Trp390Arg	CA256599 NM_001353961.2:c.1168T>C CA349056162 NM_001353961.2:c.1168T>A