Canonical Allele Identifier: PA351362
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 224617
ClinVar RCV Id: RCV000211593 RCV001190232 RCV004526645
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp170Asn
CA043768
NM_000527.5:c.508G>A