Canonical Allele Identifier: PA645379263
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252002
ClinVar RCV Id: RCV000237784
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Trp577_Asp579del
CA10585586
NM_000527.5:c.1730_1738del