ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA142575
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48090
ClinVar RCV Id:
RCV000041376
RCV000505709
RCV000692291
RCV002054813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733821.1:p.Glu290Lys
CA018785
NM_170707.4:c.868G>A