ClinGen Allele Registry
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Canonical Allele Identifier:
PA916056629
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40540
ClinVar RCV Id:
RCV000033523
RCV000763793
RCV003539767
RCV004018712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542168.1:p.Ser350Ala
CA282111
NM_080601.3:c.1048T>G