Canonical Allele Identifier: PA2825181033
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1171930
ClinVar RCV Id: RCV001525414

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Thr743Ala
CA404095172
NM_000527.5:c.2227A>G