Canonical Allele Identifier: PA645376258
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251270
ClinVar RCV Id: RCV000237517
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys173_Asp175dup
CA10584962
NM_000527.5:c.516_524dup