ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828087597
Gene: CFAP300
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350434.1:p.His235Arg
CA6246120
NM_001363505.2:c.704A>G