Canonical Allele Identifier: PA2826216225
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251521
ClinVar RCV Id: RCV000237618
ClinVar Variation Id: 1437514
ClinVar RCV Id: RCV001934029 RCV002511117 RCV003318706
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Trp178Cys
CA10585191
NM_001195803.2:c.534G>C
CA404081046
NM_001195803.2:c.534G>T