ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139675080
Gene: NOBOX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073882.3:p.Pro495Thr
CA4544538
NM_001080413.3:c.1483C>A