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
ENSP00000455114.1:p.Met412Leu
CA393061159
ENST00000566304.5:c.1234A>C
CA393061163
ENST00000566304.5:c.1234A>T