ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825495718
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1382658
ClinVar RCV Id:
RCV003657389
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Leu1291Val
CA352148232
NM_001099405.2:c.3871C>G