ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825943225
Gene: SCN5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Glu161Lys
CA018588
NM_001160161.2:c.481G>A