Canonical Allele Identifier: PA916022748
Gene: HEXA HGNC NCBI
ClinVar RCV:
RCV000670353
ClinVar Variation:
554678
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Lys413del
CA618961250
NM_001318825.2:c.1237_1239del