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: PA2827770077

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_001340880.1:p.His553Gln	CA349068232 NM_001353951.2:c.1659C>G CA349068234 NM_001353951.2:c.1659C>A