Canonical Allele Identifier: PA645378575
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251827
ClinVar RCV Id: RCV000237455

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Thr467Ile
CA10585438
NM_000527.5:c.1400C>T