Canonical Allele Identifier: PA2826215526
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_001182729.1:p.Asp483Asn
CA354422
NM_001195800.2:c.1447G>A