ClinGen Allele Registry
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Canonical Allele Identifier:
CA543450384
Gene: CFAP20DC-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs1264195204
gnomAD v2:
3-59691647-AC-A
gnomAD v3:
3-59705921-AC-A
gnomAD v4:
3-59705921-AC-A
MyVariant Identifiers:
chr3:g.59691648del (hg19)
chr3:g.59705922del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.59705922del , CM000665.2:g.59705922del
GRCh38
NC_000003.11:g.59691648del , CM000665.1:g.59691648del
GRCh37
NC_000003.10:g.59666688del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002959675.1:n.1218-103810del
Search 100 bp 5'
Search 100 bp 3'