Canonical Allele Identifier: PA2825207327
Gene: HEXA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Trp431Arg
CA393060560
NM_000520.6:c.1291T>A
CA393060565
NM_000520.6:c.1291T>C