Canonical Allele Identifier: PA2826212395
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251315
ClinVar RCV Id: RCV000238282
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Phe159Leu
CA10585005
NM_001195799.2:c.477C>A
CA404077651
NM_001195799.2:c.475T>C
CA404077681
NM_001195799.2:c.477C>G