ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826657505
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180115
ClinVar RCV Id:
RCV000156919
RCV000538272
RCV001525549
RCV003152686
RCV003998328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269553.1:p.Ile148Thr
CA018453
NM_001282624.2:c.443T>C