ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139722327
Gene: TBL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036585.1:p.Ser7Leu
CA4288821
NM_012453.4:c.20C>T