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: PA2830341220

Gene: EYA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7935

ClinVar RCV Id: RCV000008397 RCV000844628 RCV001849260 RCV002228019 RCV002288475

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742056.2:p.Arg434Gln	CA254271 NM_172059.5:c.1301G>A