Canonical Allele Identifier: PA645380625
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252291
ClinVar RCV Id: RCV000238038 RCV003581645
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser786Cys
CA10585830
NM_000527.5:c.2356A>T