ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580202732
Gene: HEXA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305754.1:p.Pro271Ser
CA393063040
NM_001318825.2:c.811C>T