ClinGen Allele Registry
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Canonical Allele Identifier:
PA916013590
Gene: LMNA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269554.1:p.Arg571Ser
CA017680
NM_001282625.2:c.1711_1712delinsTC
CA017694
NM_001282625.2:c.1711C>A