ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827290909
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236207
ClinVar RCV Id:
RCV000225160
RCV001232816
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Leu267Ser
CA10581564
NM_001330260.2:c.800T>C