Canonical Allele Identifier: PA2741841800
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2501630
ClinVar RCV Id: RCV003227425

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ile40Phe
CA404074754
NM_001195803.2:c.118A>T