ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA330190
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67965
ClinVar RCV Id:
RCV000058751
RCV000762372
RCV000824908
RCV001842380
RCV004019060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Arg1738Trp
CA018994
NM_000335.5:c.5212C>T