ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645390576
Gene: CFAP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
262551
ClinVar RCV Id:
RCV000250772
RCV000878482
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_659457.2:p.Arg102His
CA8962426
NM_145020.5:c.305G>A