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
ENSP00000264079.5:p.Asn580_Ter581insArgPheAspLeuThrAlaValGlyPro
CA403092196
ENST00000264079.11:c.1741T>C
CA403092197
ENST00000264079.11:c.1741T>A