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
NP_001365383.1:p.Val2694Leu
CA347267341
NM_001378454.1:c.8080G>C
CA347267342
NM_001378454.1:c.8080G>T