ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139735851
Gene: AHI1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060121.3:p.Pro143Leu
CA365751692
NM_017651.5:c.428C>T