ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826052188
Gene: CFAP57
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31150
ClinVar RCV Id:
RCV000024146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161437.1:p.Asp523Tyr
CA129719
NM_001167965.1:c.1567G>T