ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028139
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40547
ClinVar RCV Id:
RCV000033532
RCV000231162
RCV001804754
RCV001813256
RCV002390129
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Thr472Pro
CA282123
NM_001330437.2:c.1414A>C