ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825497352
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
520459
ClinVar RCV Id:
RCV000624731
RCV002343173
RCV002466547
RCV004002746
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Met1857dup
CA542615522
NM_001099405.2:c.5569_5571dup