Canonical Allele Identifier: PA916001845
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431509
ClinVar RCV Id: RCV000497224

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys82Ser
CA404075603
NM_001195803.2:c.244T>A
CA404075605
NM_001195803.2:c.245G>C