ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828735742
Gene: NBEAL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364955.1:p.Thr792Ile
CA2063607
NM_001378026.1:c.2375C>T