Canonical Allele Identifier: PA2741861343
Gene: HEXA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Gly96Arg
CA393067695
NM_001318825.2:c.286G>A
CA393067698
NM_001318825.2:c.286G>C