Canonical Allele Identifier: PA2826212508
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1755384
ClinVar RCV Id: RCV002369352 RCV003098375
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser185Phe
CA404078427
NM_001195799.2:c.554C>T