ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580202692
Gene: HEXA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305754.1:p.Ser221Tyr
CA393063572
NM_001318825.2:c.662C>A