ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915988446
Gene: NBEA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056493.3:p.Ile2347Val
CA6947677
NM_015678.5:c.7039A>G