ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139678903
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
946964
ClinVar RCV Id:
RCV001217931
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Glu1769Ala
CA8708784
NM_000334.4:c.5306A>C