ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3079399923
Gene: PTPN11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002825.3:p.Gln506Lys
CA386779876
NM_002834.5:c.1516C>A