Canonical Allele Identifier: PA2580202734
Gene: HEXA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.His273Gln
CA393063024
NM_001318825.2:c.819C>A
CA393063025
NM_001318825.2:c.819C>G