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
ENSP00000508382.1:p.Leu172Phe
CA393064872
ENST00000684041.1:c.516G>T
CA393064875
ENST00000684041.1:c.516G>C