Canonical Allele Identifier: PA2826212191
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375775
ClinVar RCV Id: RCV000417304
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Thr62Arg
CA16602292
NM_001195799.2:c.185C>G