Canonical Allele Identifier: PA916000847
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183128
ClinVar RCV Id: RCV000162005 RCV000238255 RCV000590648 RCV002415706
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp651Asn
CA354422
NM_001195798.2:c.1951G>A