Canonical Allele Identifier: PA915999266
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 689348
ClinVar RCV Id: RCV000850044

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Pro309His
CA404081066
NM_001195798.2:c.926C>A