ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499296044
Gene: PTPN13
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542416.1:p.Thr2386Ile
CA2997134
NM_080685.3:c.7157C>T