Canonical Allele Identifier: PA1139685192
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 922705
ClinVar RCV Id: RCV001182893
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Thr497Ala
CA404086381
NM_001195798.2:c.1489A>G