Canonical Allele Identifier: PA114091
Gene: CYB5R3 HGNC NCBI
ClinVar RCV:
RCV000000275
ClinVar Variation:
251
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123291.1:p.Glu233del
CA114090
NM_001129819.2:c.697_699del