Canonical Allele Identifier: PA1139685290
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430781
ClinVar RCV Id: RCV000495889
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Val524del
CA645373235
NM_001195798.2:c.1571_1573del