Canonical Allele Identifier: PA916002045
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430750
ClinVar RCV Id: RCV000495892
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys104Ser
CA404075857
NM_001195803.2:c.310T>A
CA404075862
NM_001195803.2:c.311G>C