Canonical Allele Identifier: PA645375550
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251097
ClinVar RCV Id: RCV000237667 RCV000481990 RCV000791390 RCV002429166
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Phe86_Arg88del
CA10584812
NM_000527.5:c.257_265del