Canonical Allele Identifier: PA2826215557
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 810849
ClinVar RCV Id: RCV001000104 RCV003229003 RCV003741244
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Pro493Ala
CA404093326
NM_001195800.2:c.1477C>G