Canonical Allele Identifier: PA645375338
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251019
ClinVar RCV Id: RCV000238421
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys34Ser
CA10584753
NM_000527.5:c.101G>C
CA404074691
NM_000527.5:c.100T>A