ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827291737
Gene: SCN8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
383545
ClinVar RCV Id:
RCV000439821
RCV000766191
RCV003992294
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Gly964Arg
CA16607342
NM_001330260.2:c.2890G>C