Canonical Allele Identifier: PA2826211378
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431509
ClinVar RCV Id: RCV000497224
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys82Ser
CA404075603
NM_001195798.2:c.244T>A
CA404075605
NM_001195798.2:c.245G>C