ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA307764
Gene: SCN5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Met1691Thr
CA018868
NM_001099404.2:c.5072T>C