ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827312817
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13334
ClinVar RCV Id:
RCV000014262
RCV000033475
RCV000156985
RCV000212891
RCV000515312
RCV001813199
RCV003147287
RCV002415414
RCV003147288
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Thr73Ile
CA256752
NM_001330437.2:c.218C>T