ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830428854
Gene: CNNM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392723
ClinVar RCV Id:
RCV000444760
RCV002481346
RCV002525507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_951058.1:p.Pro751Leu
CA16606617
NM_199076.3:c.2252C>T