Canonical Allele Identifier: PA645380531
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431544
ClinVar RCV Id: RCV000497201

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ser750Phe
CA404095337
NM_000527.5:c.2249C>T