Canonical Allele Identifier: PA645510881
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440670

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser648Phe
CA404093077
NM_000527.5:c.1943C>T