ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530349
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40484
ClinVar RCV Id:
RCV000033452
RCV000037621
RCV000809051
RCV002287349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Thr51Ile
CA261555
NM_001374625.1:c.152C>T