ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827290907
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1475711
ClinVar RCV Id:
RCV001976450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Val264Phe
CA385226528
NM_001330260.2:c.790G>T