ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827292301
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000338932
RCV000636327
RCV001254990
ClinVar Variation:
280470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Met1481Val
CA10603278
NM_001330260.2:c.4441A>G