Canonical Allele Identifier: PA2826217036
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430785
ClinVar RCV Id: RCV000495918

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp452_Ser453insLeu
CA645373242
NM_001195803.2:c.1357_1358insTGT