Canonical Allele Identifier: PA2826213120
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 920869
ClinVar RCV Id: RCV001179919
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Leu381Phe
CA404084827
NM_001195799.2:c.1141C>T