ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580146062
Gene: CFAP96
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2373634
ClinVar RCV Id:
RCV004553916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107829.1:p.Glu285Lys
CA3158879
NM_001114357.3:c.853G>A