ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916056458
Gene: PTPN11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
477671
ClinVar RCV Id:
RCV000528111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542168.1:p.Ala75Pro
CA386777884
NM_080601.3:c.223G>C