Canonical Allele Identifier: PA916001172
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226389
ClinVar RCV Id: RCV000211700 RCV000776247 RCV001284645 RCV004017509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu763Asp
CA039372
NM_001195798.2:c.2289G>T
CA404095712
NM_001195798.2:c.2289G>C