Canonical Allele Identifier: PA2828703064
Gene: MAK HGNC NCBI

Linked Data

ClinVar Variation Id: 29784
ClinVar RCV Id: RCV000022651 RCV001003075 RCV001388421
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Amino-acid Alleles

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