Canonical Allele Identifier: PA106112
Gene: MAK HGNC NCBI

Linked Data

ClinVar Variation Id: 29782
ClinVar RCV Id: RCV000022649

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005897.1:p.Asn130His
CA259647
NM_005906.6:c.388A>C