ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028167
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488166
ClinVar RCV Id:
RCV000578115
RCV000578039
RCV001091428
RCV000577961
RCV001239106
RCV002222557
RCV002404582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Arg531Cys
CA6798810
NM_001330437.2:c.1591C>T