ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107448
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68033
ClinVar RCV Id:
RCV000058836
RCV000812561
RCV000984326
RCV000987237
RCV001531996
RCV001842406
RCV001842407
RCV004019063
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Arg225Gln
CA019719
NM_198056.3:c.674G>A