ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139736159
Gene: AHI1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060121.3:p.Arg548Cys
CA4012550
NM_017651.5:c.1642C>T