ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829005778
Gene: NBEA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371941.1:p.Leu1780Pro
CA387834783
NM_001385012.1:c.5339T>C