Allele Registry

Canonical Allele Identifier: PA270076

Gene: MAK HGNC NCBI

ClinVar Allele:

152840

ClinVar RCV:

RCV000132644

RCV001341119

ClinVar Variation:

143122

HGVS (amino-acid)	Matching Registered Transcripts
NP_001229314.1:p.Arg166Cys	CA270075 NM_001242385.2:c.496C>T