ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028135
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40546
ClinVar RCV Id:
RCV000033529
RCV000037612
RCV001060541
RCV001729356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Ala465Ser
CA261537
NM_001330437.2:c.1393G>T