ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA180521
Gene: NOBOX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167875
ClinVar RCV Id:
RCV000154191
RCV000615871
RCV000965062
RCV000987991
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073882.3:p.Arg117Trp
CA180520
NM_001080413.3:c.349C>T