ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA199804
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67898
ClinVar RCV Id:
RCV000058678
RCV000171569
RCV000619395
RCV001842365
RCV001508490
RCV001542741
RCV004528265
RCV003323383
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Lys1493Arg
CA018316
NM_198056.3:c.4478A>G