Canonical Allele Identifier: PA2826216676
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251794
ClinVar RCV Id: RCV000237931 RCV001731460 RCV001804976
ClinVar Variation Id: 661768
ClinVar RCV Id: RCV000819259 RCV002487822
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp318Glu
CA033606
NM_001195803.2:c.954C>A
CA404085273
NM_001195803.2:c.954C>G