ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA294576
Gene: LMNA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005563.1:p.Met348Ile
NM_005572.4:c.1044G>A
NM_005572.4:c.1044G>C
NM_005572.4:c.1044G>T