Canonical Allele Identifier: PA2580202899
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2168889
ClinVar RCV Id: RCV003082796

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Glu414Asp
CA393061103
NM_001318825.2:c.1242G>T
CA393061106
NM_001318825.2:c.1242G>C