ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741942579
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2506817
ClinVar RCV Id:
RCV003237186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Met772Val
CA384880104
NM_014191.4:c.2314A>G