ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827921640
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67625
ClinVar RCV Id:
RCV000058381
RCV001664239
RCV003987344
RCV004019027
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Arg340Trp
CA014168
NM_001354701.2:c.1018C>T