Canonical Allele Identifier: PA1139697653
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 927147
ClinVar RCV Id: RCV001190233 RCV004033404 RCV002491571
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Val189Leu
CA043955
NM_001195798.2:c.565G>C
CA404077348
NM_001195798.2:c.565G>T