ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530601
Gene: PTPN11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Phe284Leu
CA220155
NM_001374625.1:c.850T>C
CA261606
NM_001374625.1:c.852T>G
CA386790412
NM_001374625.1:c.852T>A