ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645394118
Gene: TBCD
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005984.3:p.Arg772Cys
NM_005993.5:c.2314C>T