ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826130780
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207131
ClinVar RCV Id:
RCV000189289
RCV000239726
RCV000229600
RCV000416947
RCV002252035
RCV002281572
RCV003992221
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Arg1831Trp
CA318300
NM_001177984.2:c.5491C>T