ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827292927
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000636407
RCV000726306
RCV001197747
RCV002317158
ClinVar Variation:
207136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Arg1960Gln
CA318309
NM_001330260.2:c.5879G>A