ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825569802
Gene: NBEAL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107604.1:p.Thr763Ile
CA2063607
NM_001114132.2:c.2288C>T