Canonical Allele Identifier: PA915999403
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251594
ClinVar RCV Id: RCV000237730 RCV000589507 RCV002365244
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys338Gly
CA10585247
NM_001195798.2:c.1012T>G