Canonical Allele Identifier: PA916000118
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430777
ClinVar RCV Id: RCV000495888
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Pro476Leu
CA404085964
NM_001195798.2:c.1427C>T