ClinGen Allele Registry
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Canonical Allele Identifier:
PA645294585
Gene: PTPN11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_002825.3:p.Arg351Ter
NM_002834.5:c.1051C>T