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: PA2830341269

Gene: EYA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7936

ClinVar RCV Id: RCV000008398

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742056.2:p.Arg541Gly	CA119164 NM_172059.5:c.1621A>G