Canonical Allele Identifier: PA658742986
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 496022

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Pro683Leu
CA038297
NM_000527.5:c.2048C>T