Canonical Allele Identifier: PA915998623
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251314
ClinVar RCV Id: RCV000237736 RCV003391006 RCV003581604
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Phe200Cys
CA10585004
NM_001195798.2:c.599T>G