Canonical Allele Identifier: PA2825208659
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 977984
ClinVar RCV Id: RCV001255936
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp224_Lys225dup
CA1139666255
NM_000527.5:c.670_675dup