Canonical Allele Identifier: PA916000234
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161285
ClinVar RCV Id: RCV000161989 RCV000237459 RCV000590270 RCV002051678 RCV002390312
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp492Asn
CA023512
NM_001195798.2:c.1474G>A