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: PA2827291416

Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 253283

ClinVar RCV Id: RCV000239754 RCV001218534

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Thr668Ile	CA6571404 NM_001330260.2:c.2003C>T