Canonical Allele Identifier: PA2826214897
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_001182729.1:p.Leu254Phe
CA404084827
NM_001195800.2:c.760C>T