ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658827815
Gene: CFAP300
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116319.2:p.His259Arg
CA6246120
NM_032930.3:c.776A>G