Canonical Allele Identifier: PA916022671
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 554849
ClinVar RCV Id: RCV000670548

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Leu71Val
CA393070151
NM_001318825.2:c.211C>G