Canonical Allele Identifier: PA915999104
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183098
ClinVar RCV Id: RCV000161969 RCV000238570 RCV002444669 RCV003741152
ClinVar Variation Id: 977996
ClinVar RCV Id: RCV001255952
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Phe282Leu
CA023778
NM_001195798.2:c.846C>A
CA404080610
NM_001195798.2:c.844T>C
CA404080626
NM_001195798.2:c.846C>G