Canonical Allele Identifier: PA2826213578
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252022
ClinVar RCV Id: RCV000237292 RCV000775077 RCV000845536 RCV002401946 RCV003155136
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp548Asn
CA036508
NM_001195799.2:c.1642G>A