Canonical Allele Identifier: PA915999042
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251461
ClinVar RCV Id: RCV000238467 RCV001854890
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu267Asp
CA10585140
NM_001195798.2:c.801A>T
CA404080171
NM_001195798.2:c.801A>C