Canonical Allele Identifier: PA1139697973
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 919863
ClinVar RCV Id: RCV001178281

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Thr315Ile
CA404082603
NM_001195798.2:c.944C>T