ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028164
Gene: PTPN11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Gln514Arg
CA256761
NM_001330437.2:c.1541A>G