ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA222878
Gene: LMNA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733821.1:p.Arg50Cys
CA017346
NM_170707.4:c.148C>T