ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658654432
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000513422
RCV000540178
ClinVar Variation:
444293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Thr1614Ala
CA384880355
NM_014191.4:c.4840A>G