ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028152
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40557
ClinVar RCV Id:
RCV000033544
RCV000037619
RCV000781773
RCV002227049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Ser506Leu
CA261552
NM_001330437.2:c.1517C>T