ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658807882
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000636346
RCV002252185
ClinVar Variation:
530470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Arg1055Trp
CA6571554
NM_014191.4:c.3163C>T