Canonical Allele Identifier: PA2573067243
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1343370
ClinVar RCV Id: RCV001843991
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Lys223_Asp227del
CA2573054702
NM_001195798.2:c.667_681del