Canonical Allele Identifier: PA915999014
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183095
ClinVar RCV Id: RCV000161965 RCV001191080 RCV003998536
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Met264Leu
CA023763
NM_001195798.2:c.790A>C
CA404080083
NM_001195798.2:c.790A>T