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
ENSP00000478155.1:p.Thr2744Ser
CA1714455
ENST00000484298.5:c.8231C>G
CA347268436
ENST00000484298.5:c.8230A>T