ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827923078
Gene: SCN5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Phe1292Ser
CA017579
NM_001354701.2:c.3875T>C