ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827545726
Gene: AHI1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337432.1:p.Ser761Leu
CA240759
NM_001350503.2:c.2282C>T