Canonical Allele Identifier: PA2499241793
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 998052
ClinVar RCV Id: RCV001293737 RCV001537878 RCV004035599
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Trp443Arg
CA033596
NM_001195798.2:c.1327T>C
CA404085222
NM_001195798.2:c.1327T>A