ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826659413
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000015608
RCV000057332
RCV002399329
RCV002467496
RCV003234906
ClinVar Variation:
14513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269554.1:p.Ala529Val
CA017534
NM_001282625.2:c.1586C>T