ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827312921
Gene: PTPN11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Glu139Asp
CA177671
NM_001330437.2:c.417G>C
CA261590
NM_001330437.2:c.417G>T