ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825129111
Gene: SCN5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Glu418Lys
CA352148668
NM_000335.5:c.1252G>A