ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826658150
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14513
ClinVar RCV Id:
RCV000057332
RCV000015608
RCV002399329
RCV002467496
RCV003234906
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269553.1:p.Ala448Val
CA017534
NM_001282624.2:c.1343C>T