Canonical Allele Identifier: PA916022769
Gene: HEXA HGNC NCBI
ClinVar RCV:
RCV000416475
ClinVar Variation:
375364
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Gly489Arg
CA16044197
NM_001318825.2:c.1465G>A
CA393058884
NM_001318825.2:c.1465G>C