Canonical Allele Identifier: PA2826212904
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251639
ClinVar RCV Id: RCV000237417 RCV000775053 RCV002401934 RCV003477853 RCV004017550
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp313Gly
CA031858
NM_001195799.2:c.938A>G