Canonical Allele Identifier: PA2826215405
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161264
ClinVar RCV Id: RCV000211562 RCV000162003 RCV000791434 RCV002051657 RCV002408656 RCV002247540
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ala438Ser
CA023592
NM_001195800.2:c.1312G>T