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: PA2580567486

Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2044733

ClinVar RCV Id: RCV002903906

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Gly2849Glu	CA344830194 NM_206933.4:c.8546G>A