ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827313116
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40526
ClinVar RCV Id:
RCV000033506
RCV000037661
RCV001027860
RCV001852676
RCV002444454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Ile282Met
CA261600
NM_001330437.2:c.846C>G