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: PA2828360403

Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1686170

ClinVar RCV Id: RCV002250337

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356717.1:p.Gly384Arg	CA385227533 NM_001369788.1:c.1150G>A CA385227535 NM_001369788.1:c.1150G>C