Canonical Allele Identifier: PA916000073
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251826
ClinVar RCV Id: RCV000238401 RCV001213617
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Tyr465Cys
CA10585437
NM_001195798.2:c.1394A>G