ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827922970
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1691220
ClinVar RCV Id:
RCV002254136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Ser1217Ile
CA352137995
NM_001354701.2:c.3650G>T