ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825496108
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67882
ClinVar RCV Id:
RCV000058662
RCV000151779
RCV000252530
RCV001842361
RCV003137599
RCV002490659
RCV003488370
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Ile1430Leu
CA018152
NM_001099405.2:c.4288A>C