Canonical Allele Identifier: PA2826217151
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 889928
ClinVar RCV Id: RCV001124131
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Trp493Ser
CA404092397
NM_001195803.2:c.1478G>C