Canonical Allele Identifier: PA2826213309
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1321229
ClinVar RCV Id: RCV002227556 RCV002388665
ClinVar Variation Id: 2138225
ClinVar RCV Id: RCV003041352 RCV003318737
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Trp449Cys
CA404086245
NM_001195799.2:c.1347G>C
CA404086248
NM_001195799.2:c.1347G>T