Allele Registry

Canonical Allele Identifier: PA916009434

Gene: MAK HGNC NCBI

ClinVar RCV:

RCV000132645

RCV001315049

RCV003888560

ClinVar Variation:

143123

HGVS (amino-acid)	Matching Registered Transcripts
NP_005897.1:p.Ala185Thr	CA270078 NM_005906.6:c.553G>A