Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA153549

Gene: LRP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 129500

ClinVar RCV Id: RCV000117508 RCV000310751 RCV001515149

ClinVar Variation Id: 1653195

ClinVar RCV Id: RCV002160938

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004516.2:p.Lys4094Glu	CA153548 NM_004525.3:c.12280A>G CA2573133591 NM_004525.3:c.12279_12280delinsTG