Canonical Allele Identifier: PA2826217150
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226376
ClinVar RCV Id: RCV000211660 RCV001188071
ClinVar Variation Id: 252090
ClinVar RCV Id: RCV000237698
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Trp493Cys
CA10576323
NM_001195803.2:c.1479G>T
CA10585660
NM_001195803.2:c.1479G>C