Canonical Allele Identifier: PA916000540
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 438324
ClinVar RCV Id: RCV000505222 RCV001509013 RCV003159635 RCV003581672
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Leu575Phe
CA404089677
NM_001195798.2:c.1723C>T