ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827921169
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
570294
ClinVar RCV Id:
RCV001841859
RCV003540687
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Arg8Trp
CA352159577
NM_001354701.2:c.22C>T