ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139688632
Gene: HEXA
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001305754.1:p.Glu493Ter
NM_001318825.2:c.1477G>T