Canonical Allele Identifier: PA2826215632
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 403644
ClinVar RCV Id: RCV000455095 RCV001192331
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ser523Leu
CA038447
NM_001195800.2:c.1568C>T