ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270076
Gene: MAK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229314.1:p.Arg166Cys
CA270075
NM_001242385.2:c.496C>T