Canonical Allele Identifier: PA916001448
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251163
ClinVar RCV Id: RCV000237774 RCV001804973
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys75Arg
CA10584862
NM_001195799.2:c.223T>C