ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825495865
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67847
ClinVar RCV Id:
RCV000058626
RCV000183057
RCV000456774
RCV004017378
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Ile1334Val
CA017738
NM_001099405.2:c.4000A>G