ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658814837
Gene: CFAP43
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000626422
ClinVar Variation:
523149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079421.5:p.Val347Ala
CA5681047
NM_025145.7:c.1040T>C