ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827923511
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
24445
ClinVar RCV:
RCV000010009
RCV000058706
RCV001258074
RCV003156212
ClinVar Variation:
9406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Asp1576His
CA018558
NM_001354701.2:c.4726G>C