Canonical Allele Identifier: PA2827546290
Gene: AHI1 HGNC NCBI
ClinVar RCV:
RCV000054427
ClinVar Variation:
60535
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001337433.1:p.Arg351Leu
CA264217
NM_001350504.2:c.1052G>T