Canonical Allele Identifier: PA2826216456
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251682
ClinVar RCV Id: RCV000238163 RCV002321917
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys250Ser
CA10585321
NM_001195803.2:c.749G>C
CA404083611
NM_001195803.2:c.748T>A
CA2497030183
NM_001195803.2:c.749_750delinsCT