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: PA2825603952

Gene: PAX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2775992

ClinVar RCV Id: RCV003662889

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120838.1:p.Glu231Gln	CA351112514 NM_001127366.3:c.691G>C