ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825945751
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3073972
ClinVar RCV Id:
RCV004012514
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Thr1839Ile
CA352140350
NM_001160161.2:c.5516C>T