Canonical Allele Identifier: PA2826212499
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251375
ClinVar RCV Id: RCV000238521 RCV002374395
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp183Val
CA10585065
NM_001195799.2:c.548A>T