ClinGen Allele Registry
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Canonical Allele Identifier:
PA645449232
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
436670
ClinVar RCV Id:
RCV000503487
RCV000763860
RCV001305760
RCV001584221
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055006.1:p.Arg1055Gln
CA6571555
NM_014191.4:c.3164G>A