ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827292333
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000441856
ClinVar Variation:
377169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Gln1501Lys
CA16603287
NM_001330260.2:c.4501C>A