Canonical Allele Identifier: PA2825181081
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3070615
ClinVar RCV Id: RCV004013125
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly754_Ala755del
CA2825002703
NM_000527.5:c.2259_2264del