ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828703148
Gene: MAK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364191.1:p.Pro289Arg
CA3633589
NM_001377262.1:c.866C>G