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: PA116230

Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3472

ClinVar RCV Id: RCV000003637 RCV000984384

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001595.2:p.Gly78Val	CA116227 NM_001604.6:c.233G>T