ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825942048
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
519279
ClinVar RCV Id:
RCV000619930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Ala1426Glu
CA352145580
NM_001160160.2:c.4277C>A