ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3072256179
Gene: MAK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005897.1:p.Arg166Pro
CA362720709
NM_005906.6:c.497G>C