ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830329967
Gene: LMNA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733822.1:p.Arg554Ser
CA342826571
NM_170708.4:c.1660C>A