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: PA2573316511

Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1436556

ClinVar RCV Id: RCV001974794

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Tyr3654His	CA1393861 NM_206933.4:c.10960T>C