Canonical Allele Identifier: PA2826215622
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2713547
ClinVar RCV Id: RCV003582481 RCV004369053
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Pro517Arg
CA404093683
NM_001195800.2:c.1550C>G