ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA318257
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189266
RCV002517014
RCV003223395
ClinVar Variation:
207109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Ser845Phe
CA318256
NM_014191.4:c.2534C>T