Canonical Allele Identifier: PA916001068
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252224
ClinVar RCV Id: RCV000237628 RCV002518495 RCV003372667
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala705Ser
CA10585777
NM_001195798.2:c.2113G>T