ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580379131
Gene: NBEA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056493.3:p.Leu1622Ser
CA387833319
NM_015678.5:c.4865T>C