ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499280970
Gene: ASXL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1212249
ClinVar RCV Id:
RCV001589487
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056153.2:p.Arg1073Cys
CA9808781
NM_015338.6:c.3217C>T