ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826443572
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242002
ClinVar RCV Id:
RCV000227837
RCV000597022
RCV001184022
RCV002479935
RCV003998891
RCV004020899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244303.1:p.Arg307Cys
CA049655
NM_001257374.3:c.919C>T