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: PA2573255730

Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1686170

ClinVar RCV Id: RCV002250337

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Gly384Arg	CA385227533 NM_014191.4:c.1150G>A CA385227535 NM_014191.4:c.1150G>C