ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580316541
Gene: TBCD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005984.3:p.Lys414Glu
CA8861966
NM_005993.5:c.1240A>G