ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645455618
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_060119.3:p.Pro773Leu
CA16606617
NM_017649.5:c.2318C>T