Canonical Allele Identifier: PA2825179947
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1171903
ClinVar RCV Id: RCV001525356 RCV002495842
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val527Ile
CA034912
NM_000527.5:c.1579G>A