ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826213898
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
36459
ClinVar RCV Id:
RCV000030132
RCV000722114
RCV001537549
RCV002415431
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Ala664Pro
CA023637
NM_001195799.2:c.1990G>C