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
ENSP00000479094.1:p.Leu2683Phe
CA347267137
ENST00000614410.4:c.8049A>C
CA347267139
ENST00000614410.4:c.8049A>T