ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825495069
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67782
ClinVar RCV Id:
RCV000058554
RCV000183027
RCV000766797
RCV000987211
RCV002321559
RCV001842330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Thr1069Met
CA016900
NM_001099405.2:c.3206C>T