Canonical Allele Identifier: PA915998647
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251328
ClinVar RCV Id: RCV000238110 RCV000775045 RCV002365238 RCV004017545 RCV001729479 RCV003409368
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu208Lys
CA10585018
NM_001195798.2:c.622G>A