ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829189543
Gene: GBF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2475860
ClinVar RCV Id:
RCV004268905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001378851.1:p.Glu552Gln
CA5663295
NM_001391922.1:c.1654G>C