ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580184281
Gene: TBCB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001272.2:p.Pro200Ser
CA9397199
NM_001281.3:c.598C>T