ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530359
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40488
ClinVar RCV Id:
RCV000037629
RCV000157677
RCV000587067
RCV000556984
RCV001358687
RCV001813243
ClinVar Variation Id:
40489
ClinVar RCV Id:
RCV000033457
RCV000037630
RCV000211846
RCV000515267
RCV000588173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361554.1:p.Asn57Lys
CA235313
NM_001374625.1:c.171C>A
CA261561
NM_001374625.1:c.171C>G