Canonical Allele Identifier: PA2826215138
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251886
ClinVar RCV Id: RCV000237591 RCV001177034 RCV002401935 RCV004017558
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Thr342Met
CA034662
NM_001195800.2:c.1025C>T