Canonical Allele Identifier: PA916001832
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251085
ClinVar RCV Id: RCV000238230 RCV000776465 RCV003401201
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Arg78His
CA042534
NM_001195803.2:c.233G>A