This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: HEXB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000512.1:p.[Val39_Ser49delinsGlyGlyGlyGlySerGlyProGluArgLeuGlyGln;Lys51_Pro52delinsGlyAla;Pro54del;Leu56_Trp57delinsValAla;Leu59_Pro60delinsAlaAla;Ser62_Thr66delinsGlyGluAspAsp;Asn68_Leu69delinsGluPro]
CA913109140
NM_000521.3:c.116_117del