Canonical Allele Identifier: PA2580170796
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2419907
ClinVar RCV Id: RCV003118432

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Thr713Ile
CA404094000
NM_001195798.2:c.2138C>T