Canonical Allele Identifier: PA2826214702
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_001182729.1:p.Gln191_Asp192del
CA10585295
NM_001195800.2:c.572_577del