Canonical Allele Identifier: PA645479262
Gene: AHI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286680
ClinVar Variation Id: 2167460
ClinVar RCV Id: RCV003099045

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060121.3:p.Met1182Ile
CA4011957
NM_017651.5:c.3546G>A
CA365840710
NM_017651.5:c.3546G>T
CA365840711
NM_017651.5:c.3546G>C