Canonical Allele Identifier: PA2826217282
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 36461
ClinVar RCV Id: RCV000030134 RCV000162011 RCV000247593 RCV000771082 RCV002426526
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Thr548Ile
CA023649
NM_001195803.2:c.1643C>T