ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573196701
Gene: HEXB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278933.1:p.Thr66Ile
CA360067168
NM_001292004.1:c.197C>T