ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279369
Gene: AHI1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001128303.1:p.Asp719Gly
NM_001134831.2:c.2156A>G