ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830772102
Gene: TPK1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.0820035835
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071890.2:p.Ile68Lys
CA2579779807
NM_022445.4:c.203_204delinsAG