Canonical Allele Identifier: PA2825180164
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3072987
ClinVar RCV Id: RCV004015001
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser572Arg
CA036160
NM_000527.5:c.1716T>G
CA404089653
NM_000527.5:c.1714A>C
CA404089665
NM_000527.5:c.1716T>A