ClinGen Allele Registry
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Canonical Allele Identifier:
PA916056460
Gene: PTPN11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542168.1:p.Glu76Asp
CA261577
NM_080601.3:c.228G>C
CA261580
NM_080601.3:c.228G>T