Canonical Allele Identifier: PA2828530832
Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 40563
ClinVar RCV Id: RCV000033550 RCV000055887 RCV000154371 RCV000157683 RCV001849289 RCV002390133 RCV004554638 RCV004541060
ClinVar Variation Id: 55799
ClinVar RCV Id: RCV000049230
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361554.1:p.Gln505Pro
CA235331
NM_001374625.1:c.1514A>C
CA284668
NM_001374625.1:c.1514_1515delinsCC