ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741997439
Gene: CFAP300
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2987750
ClinVar RCV Id:
RCV003841869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116319.2:p.Ala235Thr
CA382490183
NM_032930.3:c.703G>A