Canonical Allele Identifier: PA247750
Gene: AHI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198882
ClinVar RCV Id: RCV001155546 RCV000250813 RCV002517761 RCV000724880 RCV001206260
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060121.3:p.Leu345Met
CA247748
NM_017651.5:c.1033T>A