Canonical Allele Identifier: PA1139685137
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 977990
ClinVar RCV Id: RCV001255946
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ile469Asn
CA404085808
NM_001195798.2:c.1406T>A