Canonical Allele Identifier: PA916000687
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 526755
ClinVar RCV Id: RCV002233926 RCV004002814
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.His607Tyr
CA404089841
NM_001195798.2:c.1819C>T