Canonical Allele Identifier: PA916022716
Gene: HEXA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Lys235Asn
CA393063420
NM_001318825.2:c.705G>T
CA393063421
NM_001318825.2:c.705G>C