Canonical Allele Identifier: PA915998689
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251349
ClinVar RCV Id: RCV000237120
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp217_Gly219del
CA10585038
NM_001195798.2:c.648_656del