ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645415229
Gene: CFAP43
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079421.5:p.Ser129Tyr
CA378094080
NM_025145.7:c.386C>A