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.Phe694Leu
CA50377836
ENST00000684590.1:c.2080T>C
CA347266921
ENST00000684590.1:c.2082C>A
CA347266925
ENST00000684590.1:c.2082C>G