ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825940517
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003656750
ClinVar Variation:
966968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Gln419Glu
CA352148654
NM_001160160.2:c.1255C>G