Canonical Allele Identifier: PA645378251
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226351
ClinVar RCV Id: RCV000211575 RCV001045722 RCV001560136 RCV002354591 RCV003947693 RCV004017506
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg406Trp
CA033073
NM_000527.5:c.1216C>T