ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828166765
Gene: NBEAL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352045.1:p.Ser287Leu
CA352506103
NM_001365116.2:c.860C>T