ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124048
Gene: LMNA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_733822.1:p.Glu145Lys
NM_170708.4:c.433G>A