Canonical Allele Identifier: PA2825181213
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3075049
ClinVar RCV Id: RCV004015575
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu781Lys
CA404096739
NM_000527.5:c.2341G>A