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: PA2828407345

Gene: EYA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7938

ClinVar RCV Id: RCV000008400 RCV000309264 RCV000367199 RCV000496093 RCV000606853 RCV000657911

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357265.1:p.Gly419Ser	CA119167 NM_001370336.1:c.1255G>A