ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA284684
Gene: LMNA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733822.1:p.Glu347Lys
CA016456
NM_170708.4:c.1039G>A