ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826660583
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000015575
RCV000041318
RCV000057299
RCV000190399
RCV000459624
RCV000754814
RCV000763258
RCV001179839
RCV001822996
RCV002390111
RCV004532361
ClinVar Variation:
14486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269555.1:p.Arg482Gln
CA014814
NM_001282626.2:c.1445G>A