ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022781
Gene: HEXA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305754.1:p.Leu528Val
CA393057464
NM_001318825.2:c.1582C>G