ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828064288
Gene: AHCY
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349679.1:p.Arg38Trp
CA9821134
NM_001362750.2:c.112C>T