ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123993
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14481
ClinVar RCV Id:
RCV000015569
RCV000015570
RCV000700159
RCV000057327
RCV001375641
RCV004018633
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733822.1:p.Arg527Pro
CA017498
NM_170708.4:c.1580G>C