ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA142557
Gene: LMNA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733821.1:p.Arg249Gly
CA018552
NM_170707.4:c.745C>G