Canonical Allele Identifier: PA100857
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251847
ClinVar RCV Id: RCV000238517 RCV000480044 RCV001210317 RCV002392741 RCV004017557
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Trp483Arg
CA10585457
NM_000527.5:c.1447T>C
CA404086085
NM_000527.5:c.1447T>A