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: HEXA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Phe16Leu
CA393070740
NM_001318825.2:c.48C>A
CA393070741
NM_001318825.2:c.48C>G
CA393070751
NM_001318825.2:c.46T>C