Canonical Allele Identifier: PA916000712
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252058
ClinVar RCV Id: RCV000237347 RCV001699252
ClinVar Variation Id: 252059
ClinVar RCV Id: RCV000237875 RCV002411094
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Leu611Phe
CA10585637
NM_001195798.2:c.1833G>C
CA10585638
NM_001195798.2:c.1833G>T