Canonical Allele Identifier: PA100382
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226304
ClinVar RCV Id: RCV000211569 RCV000588365 RCV001283999 RCV002426989 RCV003128396
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys27Trp
CA041664
NM_000527.5:c.81C>G