Canonical Allele Identifier: PA2826212221
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1720549
ClinVar RCV Id: RCV002298272

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser101Phe
CA404076411
NM_001195799.2:c.302C>T