Canonical Allele Identifier: PA2826212236
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251227
ClinVar RCV Id: RCV000238446
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys107Ser
CA10584922
NM_001195799.2:c.320G>C
CA404076472
NM_001195799.2:c.319T>A