Canonical Allele Identifier: PA645378913
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251899
ClinVar RCV Id: RCV000237381
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val523_Asp525del
CA10585505
NM_000527.5:c.1567_1575del