Canonical Allele Identifier: PA645379948
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431538
ClinVar RCV Id: RCV000497018 RCV001181308
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser648Ala
CA404093067
NM_000527.5:c.1942T>G