Canonical Allele Identifier: PA915998360
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251223
ClinVar RCV Id: RCV000237461 RCV001186868 RCV002327173 RCV002223826
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Thr147Ile
CA10584919
NM_001195798.2:c.440C>T