ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499272311
Gene: TBCD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005984.3:p.Glu596Lys
CA8862753
NM_005993.5:c.1786G>A