ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826130547
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189282
RCV001857653
ClinVar Variation:
207124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Met1559Val
CA318286
NM_001177984.2:c.4675A>G