ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113464
Gene: AMT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000472.2:p.Gly269Asp
NM_000481.4:c.806G>A