ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580193283
Gene: CFAP47
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291477.1:p.Val2237Ile
CA328884687
NM_001304548.2:c.6709G>A