Canonical Allele Identifier: PA1139685222
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 977992
ClinVar RCV Id: RCV001255948
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala501Thr
CA404086451
NM_001195798.2:c.1501G>A