ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827292730
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
579919
ClinVar RCV Id:
RCV000703318
RCV000763861
RCV002343547
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Ile1827Val
CA6571922
NM_001330260.2:c.5479A>G