Canonical Allele Identifier: PA2826215658
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1512785
ClinVar RCV Id: RCV002023206
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys530Ser
CA404093894
NM_001195800.2:c.1588T>A
CA404093899
NM_001195800.2:c.1589G>C