ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828087588
Gene: CFAP300
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2987750
ClinVar RCV Id:
RCV003841869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350434.1:p.Ala211Thr
CA382490183
NM_001363505.2:c.631G>A