Canonical Allele Identifier: PA916000021
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226354
ClinVar RCV Id: RCV000211635 RCV000497836
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser444Pro
CA10576304
NM_001195798.2:c.1330T>C