Canonical Allele Identifier: PA2826217024
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430783
ClinVar RCV Id: RCV000495915 RCV002404297 RCV003128404
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Val451Ala
CA036312
NM_001195803.2:c.1352T>C