Canonical Allele Identifier: PA2741861477
Gene: HEXA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Gly466Arg
CA393059284
NM_001318825.2:c.1396G>C
CA393059286
NM_001318825.2:c.1396G>A