ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826657735
Gene: LMNA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269553.1:p.Arg250Gln
CA018936
NM_001282624.2:c.749G>A