ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645390597
Gene: CFAP53
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217132
ClinVar RCV Id:
RCV001778788
RCV000240665
RCV001812206
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_659457.2:p.Arg158Gly
CA10575794
NM_145020.5:c.472A>G