ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA273422
Gene: PTPN11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002825.3:p.Gln510Glu
CA273420
NM_002834.5:c.1528C>G