Canonical Allele Identifier: PA2826217359
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252287
ClinVar RCV Id: RCV000237424
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asp596_Asn602del
CA10585827
NM_001195803.2:c.1788_1808del