ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530310
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13349
ClinVar RCV Id:
RCV000014277
RCV000033445
RCV000211847
RCV000988912
RCV000694389
RCV002496356
RCV003156060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Thr2Ile
CA256764
NM_001374625.1:c.5C>T