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
ENSP00000457125.1:p.Phe300Leu
CA393062455
ENST00000569410.5:c.900C>G
CA393062457
ENST00000569410.5:c.900C>A
CA393062463
ENST00000569410.5:c.898T>C