Canonical Allele Identifier: PA1139686063
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 920885
ClinVar RCV Id: RCV001179938

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Pro747Ser
CA404095234
NM_001195798.2:c.2239C>T