ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916062047
Gene: CNNM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
192325
ClinVar RCV Id:
RCV000172915
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_951059.1:p.Ser269Trp
CA200202
NM_199077.3:c.806C>G