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: PA2826707833

Gene: EYA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2807432

ClinVar RCV Id: RCV003760753

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001275504.1:p.Tyr316Cys	CA371466670 NM_001288575.2:c.947A>G