ClinGen Allele Registry
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Canonical Allele Identifier:
PA916018438
Gene: HEXB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278933.1:p.Ala53Val
CA10606369
NM_001292004.1:c.158C>T