ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645497737
Gene: CBR3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001227.1:p.Val244Met
NM_001236.4:c.730G>A