ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530344
Gene: PTPN11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Leu43Phe
CA386776360
NM_001374625.1:c.127C>T