ClinGen Allele Registry
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Canonical Allele Identifier:
PA114092
Gene: CYB5R3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001165132.1:p.Glu233del
NM_001171661.1:c.697_699del
NM_001171661.1:c.[697_699del;702G=]