Canonical Allele Identifier: PA2826213461
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251949
ClinVar RCV Id: RCV000238388 RCV000775074
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Leu506Pro
CA10585539
NM_001195799.2:c.1517T>C