Allele Registry

Canonical Allele Identifier: PA2828703079

Gene: MAK HGNC NCBI

ClinVar RCV:

RCV000132645

RCV001315049

RCV003888560

ClinVar Variation:

143123

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364191.1:p.Ala151Thr	CA270078 NM_001377262.1:c.451G>A