ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124070
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_005563.1:p.Ala529Val
CA017534
NM_005572.4:c.1586C>T