Canonical Allele Identifier: PA916000998
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441227
ClinVar RCV Id: RCV000509393

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Pro685Gln
CA404093679
NM_001195798.2:c.2054C>A