ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099499
Gene: HEXA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000511.2:p.Glu482Lys
NM_000520.6:c.1444G>A