ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826130865
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207136
ClinVar RCV Id:
RCV000636407
RCV000726306
RCV001197747
RCV002317158
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Arg1919Gln
CA318309
NM_001177984.2:c.5756G>A