ClinGen Allele Registry
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Canonical Allele Identifier:
CA1048502693
Gene: CFAP20DC-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs1700184310
gnomAD v3:
3-59705804-T-TG
gnomAD v4:
3-59705804-T-TG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.59705809dup , CM000665.2:g.59705809dup
GRCh38
NC_000003.11:g.59691535dup , CM000665.1:g.59691535dup
GRCh37
NC_000003.10:g.59666575dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002959675.1:n.1218-103923dup
Search 100 bp 5'
Search 100 bp 3'