ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827292759
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
639109
ClinVar RCV Id:
RCV000791829
RCV000992913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Lys1853Arg
CA384887536
NM_001330260.2:c.5558A>G