Canonical Allele Identifier: PA645377908
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251604
ClinVar RCV Id: RCV000237392 RCV000590555 RCV001064785 RCV001800606 RCV002379059
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp342Glu
CA10585256
NM_000527.5:c.1026C>G
CA404082755
NM_000527.5:c.1026C>A