ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830325794
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001968068
ClinVar Variation:
1442001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733821.1:p.Gln30Glu
CA342807364
NM_170707.4:c.88C>G