ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826211257
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430745
ClinVar RCV Id:
RCV000495866
RCV000775020
RCV002307522
RCV003322777
RCV002431443
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Glu28Lys
CA041712
NM_001195798.2:c.82G>A