ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825942298
Gene: SCN5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Thr1587Met
CA018653
NM_001160160.2:c.4760C>T
CA085295
NM_001160160.2:c.[4760C>T;3691C>T]