Canonical Allele Identifier: PA916000573
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252004
ClinVar RCV Id: RCV000237962 RCV000254781
ClinVar Variation Id: 406163
ClinVar RCV Id: RCV000467552 RCV001450035
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Trp577Cys
CA10585587
NM_001195798.2:c.1731G>T
CA16615991
NM_001195798.2:c.1731G>C