Canonical Allele Identifier: PA085265
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226394
ClinVar RCV Id: RCV000211657 RCV001034620 RCV001553637 RCV001529505 RCV002444850
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val800_Leu802del
CA023662
NM_000527.5:c.2397_2405del