Allele Registry

Canonical Allele Identifier: PA105754

Gene: MCOLN1 HGNC NCBI

ClinVar Allele:

20176

ClinVar RCV:

RCV000005444

ClinVar Variation:

5137

HGVS (amino-acid)	Matching Registered Transcripts
NP_065394.1:p.Arg403Cys	CA340347 NM_020533.3:c.1207C>T