ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573101235
Gene: TBC1D8B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_942582.1:p.Lys207Ile
CA413821728
NM_198881.2:c.620A>T