ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573067414
Gene: NBEA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191126.1:p.Leu308Met
CA387987896
NM_001204197.3:c.922C>A