ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916056491
Gene: PTPN11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542168.1:p.Lys131Arg
CA134665
NM_080601.3:c.392A>G