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: PA2826012120

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2715650

ClinVar RCV Id: RCV003590626

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.His553Gln	CA349068232 NM_001165964.3:c.1659C>G CA349068234 NM_001165964.3:c.1659C>A