Canonical Allele Identifier: PA2826216404
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251654
ClinVar RCV Id: RCV000237400
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gln232_Asp233del
CA10585295
NM_001195803.2:c.695_700del