Canonical Allele Identifier: PA916000338
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183119
ClinVar RCV Id: RCV000161993 RCV000237418
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Val524Met
CA023529
NM_001195798.2:c.1570G>A