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: PA2580568605

Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1964460

ClinVar RCV Id: RCV002740316

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Gly4647Glu	CA344841152 NM_206933.4:c.13940G>A