ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449041
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000482488
RCV001330496
RCV001856835
ClinVar Variation:
419568
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Ile240Val
CA16619557
NM_014191.4:c.718A>G