ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829005753
Gene: NBEA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371941.1:p.Ser1616Tyr
CA387833234
NM_001385012.1:c.4847C>A