Canonical Allele Identifier: PA100290
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251277
ClinVar RCV Id: RCV000238354 RCV000478384 RCV000791359 RCV002338788
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys173Trp
CA10584968
NM_000527.5:c.519C>G