Canonical Allele Identifier: PA915998851
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251400
ClinVar RCV Id: RCV000237820 RCV002374397
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys231Trp
CA10585085
NM_001195798.2:c.693C>G