Canonical Allele Identifier: PA913195416
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 629507
ClinVar RCV Id: RCV000774216 RCV004001367
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val727Asp
CA404094881
NM_000527.5:c.2180T>A