Canonical Allele Identifier: PA645379419
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430786

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Leu582Phe
CA404089710
NM_000527.5:c.1744C>T