ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827922133
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
927387
ClinVar RCV Id:
RCV001841115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Ala658Ser
CA352145050
NM_001354701.2:c.1972G>T