ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826212950
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251665
ClinVar RCV Id:
RCV000237712
RCV000781493
RCV001800607
RCV002429173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Cys327Tyr
CA032090
NM_001195799.2:c.980G>A