ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099618
Gene: HEXA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000511.2:p.Leu39Arg
CA252933
NM_000520.6:c.116T>G