Canonical Allele Identifier: PA2826214637
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251599
ClinVar RCV Id: RCV000237320 RCV001203165 RCV004017547
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys172Leu
CA10585253
NM_001195800.2:c.515_516delinsTG