ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658661630
Gene: AHCY
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000678.1:p.Arg38Trp
NM_000687.4:c.112C>T