Canonical Allele Identifier: PA2825208565
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2577317
ClinVar RCV Id: RCV003324394
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp172Val
CA404076942
NM_000527.5:c.515A>T
CA2580612602
NM_000527.5:c.515_516delinsTT