ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645415202
Gene: CFAP43
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079421.5:p.Arg85Trp
CA5681334
NM_025145.7:c.253C>T