Canonical Allele Identifier: PA2826211495
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251173
ClinVar RCV Id: RCV000237321
ClinVar Variation Id: 251176
ClinVar RCV Id: RCV000238114 RCV004546468
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys121Ser
CA10584872
NM_001195798.2:c.361T>A
CA10584875
NM_001195798.2:c.362G>C