Canonical Allele Identifier: PA3081919917
Gene: HEXA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Trp26Cys
CA393070627
NM_000520.6:c.78G>T
CA393070629
NM_000520.6:c.78G>C