ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827292550
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001775251
ClinVar Variation:
1320078
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Ala1650Asp
CA384880650
NM_001330260.2:c.4949C>A