ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA307985
Gene: SCN5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000326.2:p.Glu48Lys
NM_000335.5:c.142G>A