ClinGen Allele Registry
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Canonical Allele Identifier:
PA114091
Gene: CYB5R3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001123291.1:p.Glu233del
NM_001129819.2:c.697_699del
NM_001129819.2:c.[697_699del;702G=]