Canonical Allele Identifier: PA658827388
Gene: HEXA HGNC NCBI
ClinVar RCV:
RCV000670353
ClinVar Variation:
554678
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Lys402del
CA618961250
NM_000520.6:c.1204_1206del