Canonical Allele Identifier: PA1139697568
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 927935
ClinVar RCV Id: RCV001191508
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Gln154His
CA404076573
NM_001195798.2:c.462G>C
CA404076575
NM_001195798.2:c.462G>T