Canonical Allele Identifier: PA2826214757
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251682
ClinVar RCV Id: RCV000238163 RCV002321917
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys209Ser
CA10585321
NM_001195800.2:c.626G>C
CA404083611
NM_001195800.2:c.625T>A
CA2497030183
NM_001195800.2:c.626_627delinsCT