ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915958531
Gene: HEXB
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000512.2:p.Lys121Arg
NM_000521.4:c.362A>G