Canonical Allele Identifier: PA1139697814
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 857983
ClinVar RCV Id: RCV001063763 RCV004000135
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.His250Gln
CA305298358
NM_001195798.2:c.750T>A
CA404079742
NM_001195798.2:c.750T>G