ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826660030
Gene: LMNA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269555.1:p.Asp230Asn
CA018460
NM_001282626.2:c.688G>A