ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825944537
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058554
RCV000183027
RCV000766797
RCV000987211
RCV001842330
RCV002321559
ClinVar Variation:
67782
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Thr1069Met
CA016900
NM_001160161.2:c.3206C>T