ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830327235
Gene: LMNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246074
ClinVar RCV Id:
RCV000653901
RCV000771975
RCV000727308
RCV001174248
RCV002401922
RCV003998912
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733821.1:p.Arg335Gln
CA048759
NM_170707.4:c.1004G>A