Canonical Allele Identifier: PA2826213599
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252029
ClinVar RCV Id: RCV000237727
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg554Leu
CA10585609
NM_001195799.2:c.1661G>T