ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580548793
Gene: CFAP65
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004091160
ClinVar Variation:
2226527
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_919278.2:p.Pro649Leu
CA2115811
NM_194302.4:c.1946C>T