ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827313226
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40540
ClinVar RCV Id:
RCV000033523
RCV000763793
RCV003539767
RCV004018712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317366.1:p.Ser350Ala
CA282111
NM_001330437.2:c.1048T>G