ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827312819
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000033474
RCV003152671
RCV003654180
ClinVar Variation:
40501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Thr73Pro
CA282079
NM_001330437.2:c.217A>C