Canonical Allele Identifier: PA645376263
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251275
ClinVar RCV Id: RCV000237204
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys173Tyr
CA10584965
NM_000527.5:c.518G>A