ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530769
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_001361554.1:p.Ala460Ser
CA261537
NM_001374625.1:c.1378G>T