ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825943097
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67736
ClinVar RCV Id:
RCV000058505
RCV003556149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Asp84Asn
CA016221
NM_001160161.2:c.250G>A