ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825497180
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
936302
ClinVar RCV Id:
RCV002348667
RCV003656462
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Pro1806Leu
CA352141039
NM_001099405.2:c.5417C>T