Canonical Allele Identifier: PA2826217190
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226380
ClinVar RCV Id: RCV000211621 RCV001090454 RCV001188072 RCV002408919 RCV004017507
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Arg506His
CA037362
NM_001195803.2:c.1517G>A