Canonical Allele Identifier: PA645378731
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251854
ClinVar RCV Id: RCV000238057 RCV002229691
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asn487del
CA10585465
NM_000527.5:c.1460_1462del