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.Gln69His
CA403152967
ENST00000601003.1:c.207A>C
CA403152968
ENST00000601003.1:c.207A>T