ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828361221
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000578414
RCV003753133
ClinVar Variation:
488588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356717.1:p.Gln1429Pro
CA384908600
NM_001369788.1:c.4286A>C