Canonical Allele Identifier: PA916001063
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252221
ClinVar RCV Id: RCV000237946 RCV001090455
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp700Glu
CA10585774
NM_001195798.2:c.2100C>G
CA404093923
NM_001195798.2:c.2100C>A