Canonical Allele Identifier: PA2826213990
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 629261
ClinVar RCV Id: RCV000773961

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Pro716Ala
CA404095547
NM_001195799.2:c.2146C>G