ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916056634
Gene: PTPN11
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_542168.1:p.Arg351Ter
NM_080601.3:c.1051C>T