ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580198546
Gene: TBCE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274730.1:p.Leu540Val
CA344951998
NM_001287801.2:c.1618C>G