Canonical Allele Identifier: PA2825208514
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1720549
ClinVar RCV Id: RCV002298272

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser142Phe
CA404076411
NM_000527.5:c.425C>T