ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829484644
Gene: GBF1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004268905
ClinVar Variation:
2475860
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004184.1:p.Glu519Gln
CA5663295
NM_004193.3:c.1555G>C