Canonical Allele Identifier: PA2825206309
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 989844
ClinVar RCV Id: RCV001277745

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Gln31His
CA393070566
NM_000520.6:c.93A>T
CA393070567
NM_000520.6:c.93A>C