ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA180975
Gene: PTPN11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
48955
ClinVar RCV:
RCV000154561
RCV000518841
RCV000557839
RCV000788006
RCV000995619
RCV004528152
ClinVar Variation:
40485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002825.3:p.Ile56Val
CA180973
NM_002834.5:c.166A>G