Canonical Allele Identifier: PA916000831
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252121
ClinVar RCV Id: RCV000238268 RCV002518490 RCV003372665
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Pro649Ser
CA10585688
NM_001195798.2:c.1945C>T