Canonical Allele Identifier: PA2826213552
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430785
ClinVar RCV Id: RCV000495918

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp538_Ser539insLeu
CA645373242
NM_001195799.2:c.1615_1616insTGT