Canonical Allele Identifier: PA2825181406
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3073105
ClinVar RCV Id: RCV004015119

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Lys811Asn
CA404098714
NM_000527.5:c.2433G>C
CA404098716
NM_000527.5:c.2433G>T