ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093469
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5905
ClinVar RCV Id:
RCV000006267
RCV000006268
RCV000518064
RCV000800365
RCV001849259
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Val1589Met
CA117842
NM_000334.4:c.4765G>A