Canonical Allele Identifier: PA916002047
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251132
ClinVar RCV Id: RCV000237815 RCV000781506 RCV000775033 RCV002281078 RCV002321911
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Pro105Ser
CA042924
NM_001195803.2:c.313C>T