Canonical Allele Identifier: PA916001539
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 577814
ClinVar RCV Id: RCV001264550 RCV000700653 RCV002485721
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp92Ala
CA404076351
NM_001195799.2:c.275A>C