Canonical Allele Identifier: PA916001745
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251037
ClinVar RCV Id: RCV000238452 RCV000455469 RCV000985762 RCV001191123 RCV002392739
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ala50Thr
CA041995
NM_001195803.2:c.148G>A