ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254759
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9375
ClinVar RCV Id:
RCV000009969
RCV000058778
RCV001561910
RCV002345237
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Tyr1794Cys
CA019196
NM_000335.5:c.5381A>G