ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826129596
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189260
RCV001807118
ClinVar Variation:
207105
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171455.1:p.Met367Val
CA318248
NM_001177984.2:c.1099A>G