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
NP_065394.1:p.Thr232Ser
CA304853685
NM_020533.3:c.695C>G
CA403083777
NM_020533.3:c.694A>T