Canonical Allele Identifier: PA645375801
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 237873
ClinVar RCV Id: RCV001273281 RCV002478838 RCV002450673 RCV002494626
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp118Asn
CA10583773
NM_000527.5:c.352G>A