ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827292460
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_001317189.1:p.Met1600Val
CA318286
NM_001330260.2:c.4798A>G