Canonical Allele Identifier: PA916001954
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251105
ClinVar RCV Id: RCV000238573 RCV000494304 RCV000776467 RCV002450742 RCV004017538
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp90Asn
CA042604
NM_001195803.2:c.268G>A