ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580520770
Gene: CFAP65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2398216
ClinVar RCV Id:
RCV004226916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689602.2:p.Val72Met
CA2116352
NM_152389.4:c.214G>A