Canonical Allele Identifier: PA1139685770
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 924020
ClinVar RCV Id: RCV001185135

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser630Arg
CA404092662
NM_001195798.2:c.1888A>C
CA404092681
NM_001195798.2:c.1890T>A
CA404092684
NM_001195798.2:c.1890T>G