ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139736653
Gene: NBEAL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055990.1:p.Asp368Asn
CA2360282
NM_015175.3:c.1102G>A