ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573199328
Gene: HEXA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305754.1:p.Thr505Arg
CA393058681
NM_001318825.2:c.1514C>G