Canonical Allele Identifier: PA645375348
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430746
ClinVar RCV Id: RCV000495891
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys39Phe
CA404074745
NM_000527.5:c.116G>T