Canonical Allele Identifier: PA2826212653
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183096
ClinVar RCV Id: RCV000161967
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys235Ser
CA023771
NM_001195799.2:c.704G>C
CA404080512
NM_001195799.2:c.703T>A