ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830160510
Gene: PTPN13
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542415.1:p.Thr2190Ile
CA2997134
NM_080684.3:c.6569C>T