Canonical Allele Identifier: PA2826214128
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3704
ClinVar RCV Id: RCV000003893 RCV000162025 RCV002426485 RCV002512729
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Tyr787Cys
CA023679
NM_001195799.2:c.2360A>G