ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116482
Gene: HEXB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000512.1:p.Lys121Arg
CA116481
NM_000521.3:c.362A>G