Canonical Allele Identifier: PA916001790
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161273
ClinVar RCV Id: RCV000161951 RCV000211598 RCV000454406 RCV000775024 RCV002408657 RCV002051666
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Thr62Met
CA023598
NM_001195803.2:c.185C>T