Canonical Allele Identifier: PA916000312
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251900
ClinVar RCV Id: RCV000238520
ClinVar Variation Id: 993226
ClinVar RCV Id: RCV001284640 RCV003284137 RCV003741255
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Val523Leu
CA034835
NM_001195798.2:c.1567G>C
CA10585504
NM_001195798.2:c.1567G>T