Canonical Allele Identifier: PA645468427
Gene: HEXA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000511.2:p.Gln384Ter
NM_000520.6:c.[1149del;1151A>T;1153C>A]

NM_000520.6:c.1150C>T