ClinGen Allele Registry
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Canonical Allele Identifier:
PA916056485
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40508
ClinVar RCV Id:
RCV000033485
RCV001002539
RCV001089572
RCV001221785
RCV003333003
RCV003333004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542168.1:p.Glu110Ala
CA282085
NM_080601.3:c.329A>C