ClinGen Allele Registry
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Canonical Allele Identifier:
PA277500
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058429
RCV000196670
RCV000239767
RCV000656174
RCV001842283
ClinVar Variation:
67667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Arg523Cys
CA014976
NM_001099404.2:c.1567C>T