ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827922046
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201461
ClinVar RCV Id:
RCV000182985
RCV000252061
RCV001729437
RCV001842903
RCV002478621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Gly607Val
CA015393
NM_001354701.2:c.1820G>T