ClinGen Allele Registry
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Canonical Allele Identifier:
PA265944
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058850
RCV000182949
RCV000240636
RCV000781844
RCV003996556
ClinVar Variation:
68047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Arg282Cys
CA019844
NM_001099404.2:c.844C>T