ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828816290
Gene: NBEA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366174.1:p.Pro833Ser
CA6946469
NM_001379245.1:c.2497C>T