Canonical Allele Identifier: PA2826214433
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183096
ClinVar RCV Id: RCV000161967
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys108Ser
CA023771
NM_001195800.2:c.323G>C
CA404080512
NM_001195800.2:c.322T>A