Canonical Allele Identifier: PA645376964
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251388
ClinVar RCV Id: RCV000238561 RCV001066736
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp227Val
CA10585076
NM_000527.5:c.680A>T