ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124004
Gene: LMNA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733822.1:p.Arg527Cys
CA017487
NM_170708.4:c.1579C>T