ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA185843
Gene: LMNA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
172484
ClinVar RCV:
RCV000156919
RCV000538272
RCV001525549
RCV003152686
RCV003998328
ClinVar Variation:
180115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005563.1:p.Ile229Thr
CA018453
NM_005572.4:c.686T>C