ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120327
Gene: SCN5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001092874.1:p.Glu1784Lys
NM_001099404.2:c.5350G>A