Canonical Allele Identifier: PA916001148
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 68104
ClinVar RCV Id: RCV000058922 RCV000172965 RCV001082553 RCV001698956 RCV002426620
ClinVar Variation Id: 456652
ClinVar RCV Id: RCV000776109 RCV000543887 RCV000614040 RCV002420356
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg744Gln
CA023651
NM_001195798.2:c.2231G>A
CA658658781
NM_001195798.2:c.2231_2232delinsAG