ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829374718
Gene: LBR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000483832
RCV000516056
RCV001330715
RCV002526980
RCV003987561
ClinVar Variation:
424332
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002287.2:p.Arg512Gln
CA1417117
NM_002296.4:c.1535G>A