ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825945764
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058801
RCV002490662
RCV003539785
RCV003996551
RCV004017382
ClinVar Variation:
68007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Glu1847Gln
CA019431
NM_001160161.2:c.5539G>C