ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573092178
Gene: NBEA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056493.3:p.Pro1728Leu
CA387834458
NM_015678.5:c.5183C>T