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: MCOLN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000469074.1:p.Gly200Ala
CA403083898
ENST00000601003.1:c.599G>C
CA2587948495
ENST00000601003.1:c.597del