ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658829338
Gene: PTPN11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002825.3:p.Leu43Phe
CA386776360
NM_002834.5:c.127C>T