ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530825
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13332
ClinVar RCV Id:
RCV000014260
RCV000033543
RCV000156995
RCV000212897
RCV001851849
RCV002490364
RCV004532342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Ser501Thr
CA180739
NM_001374625.1:c.1501T>A