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: PA2827292771

Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1200168

ClinVar RCV Id: RCV001565099 RCV001865997 RCV003326154 RCV004536192

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Glu1861Asp	CA384887770 NM_001330260.2:c.5583G>C CA384887771 NM_001330260.2:c.5583G>T