ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827313114
Gene: PTPN11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Ile282Val
CA220152
NM_001330437.2:c.844A>G