Canonical Allele Identifier: PA2826214284
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 68099

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ala50Ser
CA023515
NM_001195800.2:c.148G>T