ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825497338
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2858096
ClinVar RCV Id:
RCV003704176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Glu1846Ala
CA352140724
NM_001099405.2:c.5537A>C