ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499245339
Gene: LMNA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001307001
RCV004005039
ClinVar Variation:
1009498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269553.1:p.Ala66Thr
CA053436
NM_001282624.2:c.196G>A