ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828816407
Gene: NBEA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366174.1:p.Ser1613Tyr
CA387833234
NM_001379245.1:c.4838C>A