Canonical Allele Identifier: PA2826216080
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183094
ClinVar RCV Id: RCV000161964 RCV002505197
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Arg130His
CA023759
NM_001195803.2:c.389_390delinsAC