ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825942385
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67951
ClinVar RCV Id:
RCV000058736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Ser1639Tyr
CA018848
NM_001160160.2:c.4916C>A