ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826658813
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48077
ClinVar RCV Id:
RCV000041362
RCV000818791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269554.1:p.Arg249Gly
CA018552
NM_001282625.2:c.745C>G