Canonical Allele Identifier: PA2826212311
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3072154
ClinVar RCV Id: RCV004012184
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Pro130Leu
CA404076932
NM_001195799.2:c.389C>T