This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: ALMS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000498504.1:p.Asp730Glu
CA1715406
ENST00000651057.1:c.2190C>A
CA347266637
ENST00000651057.1:c.2190C>G