Canonical Allele Identifier: PA916001842
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251092
ClinVar RCV Id: RCV000237958 RCV002429165
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys82Tyr
CA10584807
NM_001195803.2:c.245G>A