Allele Registry

Canonical Allele Identifier: PA2828703065

Gene: MAK HGNC NCBI

ClinVar Allele:

152840

ClinVar RCV:

RCV000132644

RCV001341119

ClinVar Variation:

143122

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364191.1:p.Arg132Cys	CA270075 NM_001377262.1:c.394C>T