Canonical Allele Identifier: PA915998953
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161261
ClinVar RCV Id: RCV000162019 RCV000172958 RCV001201284 RCV002051654 RCV001085872 RCV002390309
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg253Trp
CA023757
NM_001195798.2:c.757C>T