ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825785208
Gene: AHI1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128304.1:p.Arg565His
CA4012542
NM_001134832.2:c.1694G>A