Canonical Allele Identifier: PA2826214455
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251483
ClinVar RCV Id: RCV000237583
ClinVar Variation Id: 251486
ClinVar RCV Id: RCV000237595
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys116Ser
CA10585157
NM_001195800.2:c.346T>A
CA10585160
NM_001195800.2:c.347G>C