Canonical Allele Identifier: PA2826213121
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431525
ClinVar RCV Id: RCV000497147 RCV001770378 RCV004023324
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ile382Met
CA404084841
NM_001195799.2:c.1146C>G