Canonical Allele Identifier: PA2826213676
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252091
ClinVar RCV Id: RCV000237438 RCV001857831
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Thr580Arg
CA10585662
NM_001195799.2:c.1739C>G