Canonical Allele Identifier: PA2825181388
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3072625
ClinVar RCV Id: RCV004013647

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val806Leu
CA404098504
NM_000527.5:c.2416G>C