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: PA2827771889

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 420677

ClinVar RCV Id: RCV000479372

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Pro1748Ser	CA16617281 NM_001353951.2:c.5242C>T