ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829603490
Gene: LMNA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
244224
ClinVar RCV:
RCV000653901
RCV000727308
RCV000771975
RCV001174248
RCV002401922
RCV003998912
ClinVar Variation:
246074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005563.1:p.Arg335Gln
CA048759
NM_005572.4:c.1004G>A