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: PA2827768228

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2430626

ClinVar RCV Id: RCV003129159

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Lys1803Asn	CA349067542 NM_001353950.2:c.5409G>T CA349067544 NM_001353950.2:c.5409G>C