Canonical Allele Identifier: PA916000718
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440664
ClinVar RCV Id: RCV000508951 RCV001179047 RCV002223856
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala612Val
CA305301822
NM_001195798.2:c.1835C>T