Allele Registry

Canonical Allele Identifier: PA2828703064

Gene: MAK HGNC NCBI

ClinVar RCV:

RCV000022651

RCV001003075

RCV001388421

ClinVar Variation:

29784

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364191.1:p.Arg132His	CA259651 NM_001377262.1:c.395G>A