ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830160368
Gene: PTPN13
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542414.1:p.Thr2381Ile
CA2997134
NM_080683.3:c.7142C>T