ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830428631
Gene: CNNM2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_951058.1:p.Pro227Arg
CA377957216
NM_199076.3:c.680C>G