Canonical Allele Identifier: PA2825180320
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3070470
ClinVar RCV Id: RCV004012980

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly593Asp
CA404089768
NM_000527.5:c.1778G>A