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: PA1139764578

Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 941952

ClinVar RCV Id: RCV001211833 RCV001833857 RCV002561765 RCV003449667 RCV003994234

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Val3612Ile	CA1393910 NM_206933.4:c.10834G>A