Canonical Allele Identifier: PA2828530377
Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 40495
ClinVar RCV Id: RCV000033463 RCV000157678 RCV000576434 RCV000599619 RCV001813245 RCV001775072 RCV002408496 RCV003224113 RCV003147304 RCV003147305 RCV004532485
ClinVar Variation Id: 372703
ClinVar RCV Id: RCV000412983
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361554.1:p.Asp60Asn
CA235316
NM_001374625.1:c.178G>A
CA16042833
NM_001374625.1:c.177_178delinsAA