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: PA2573183528

Gene: GLRA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1479578

ClinVar RCV Id: RCV001976843 RCV002573512

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001139512.1:p.Ile285_Thr290del	CA563631489 NM_001146040.2:c.855_872del