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
ENSP00000507376.1:p.Thr2058Ser
CA347267240
ENST00000684590.1:c.6172A>T
CA347267248
ENST00000684590.1:c.6173C>G