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: PA1139762179

Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2359

ClinVar RCV Id: RCV000002453 RCV000224697 RCV000504809 RCV000778222 RCV000824795 RCV000984315 RCV001074823 RCV002482817

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_996816.3:p.Cys419Phe	CA252239 NM_206933.4:c.1256G>T