Canonical Allele Identifier: PA279353
Gene: AHI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217545
ClinVar RCV Id: RCV000201537 RCV000817125 RCV003235125 RCV003237762
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001128303.1:p.Trp725Arg
CA279352
NM_001134831.2:c.2173T>C
CA365743559
NM_001134831.2:c.2173T>A