ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530407
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13337
ClinVar RCV Id:
RCV000014265
RCV000781775
RCV000788241
RCV001813201
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Glu75Val
CA123041
NM_001374625.1:c.224A>T