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: PA2830341024

Gene: EYA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7936

ClinVar RCV Id: RCV000008398

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742055.1:p.Arg547Gly	CA119164 NM_172058.4:c.1639A>G