ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827312831
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13336
ClinVar RCV Id:
RCV000014264
RCV000033476
RCV000156974
RCV000212892
RCV000422851
RCV000433549
RCV000432364
RCV000422541
RCV000439757
RCV001254876
RCV004545728
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Glu76Lys
CA123038
NM_001330437.2:c.226G>A