ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827923557
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058715
RCV000144031
RCV001836727
RCV001842371
RCV002477202
ClinVar Variation:
67932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Thr1601Met
CA018653
NM_001354701.2:c.4802C>T
CA085295
NM_001354701.2:c.[4802C>T;3691C>T]