ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827313278
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224093
ClinVar RCV Id:
RCV000209886
RCV001853345
RCV002261008
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Ala392Thr
CA357176
NM_001330437.2:c.1174G>A