ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116488
Gene: HEXB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000512.1:p.Arg505Gln
CA116487
NM_000521.3:c.1514G>A