ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA122807
Gene: AHCY
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001155238.1:p.Tyr115Cys
NM_001161766.2:c.344A>G