ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825495075
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
532071
ClinVar RCV Id:
RCV000992911
RCV001264426
RCV001841832
RCV002325235
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Glu1072del
CA061383
NM_001099405.2:c.3214_3216del