ClinGen Allele Registry
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Canonical Allele Identifier:
PA265700
Gene: SCN5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Thr1619Met
CA018653
NM_000335.5:c.4856C>T
CA085295
NM_000335.5:c.[4856C>T;3691C>T]