Canonical Allele Identifier: PA916000270
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 630671
ClinVar RCV Id: RCV000776624 RCV004027297
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Leu511Phe
CA404086529
NM_001195798.2:c.1533A>T
CA404086530
NM_001195798.2:c.1533A>C