ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826212868
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161274
ClinVar RCV Id:
RCV000218676
RCV000238033
RCV000162022
RCV000771314
RCV002381456
RCV002051667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Asp301Asn
CA023404
NM_001195799.2:c.901G>A