ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645294398
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000157002
RCV000157675
RCV000227194
RCV001330777
RCV001813241
RCV002399352
RCV002482941
ClinVar Variation:
40482
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542168.1:p.Thr42Ala
CA235307
NM_080601.3:c.124A>G