ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827545520
Gene: AHI1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337432.1:p.Arg495Cys
CA148136846
NM_001350503.2:c.1483C>T