ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826213589
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161271
ClinVar RCV Id:
RCV000162001
RCV000172964
RCV000587007
RCV000844730
RCV002399517
RCV003330084
RCV002051664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Gly551Glu
CA023577
NM_001195799.2:c.1652G>A