Canonical Allele Identifier: PA2826214880
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251752
ClinVar RCV Id: RCV000237115 RCV000437123 RCV001182458 RCV004017554 RCV004020962
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Arg248Gln
CA033210
NM_001195800.2:c.743G>A