Canonical Allele Identifier: PA645376214
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251249
ClinVar RCV Id: RCV000238539 RCV002338781
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys160Tyr
CA10584941
NM_000527.5:c.479G>A