Canonical Allele Identifier: PA2580164580
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1996374
ClinVar RCV Id: RCV002802006
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala705Val
CA404093948
NM_001195798.2:c.2114C>T