ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645294406
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40500
ClinVar RCV Id:
RCV000033472
RCV000037635
RCV001852674
RCV003103718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542168.1:p.Ala72Pro
CA261571
NM_080601.3:c.214G>C