ClinGen Allele Registry
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Canonical Allele Identifier:
CA543450381
Gene: CFAP20DC-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs1290396103
gnomAD v2:
3-59691635-GC-G
gnomAD v3:
3-59705909-GC-G
gnomAD v4:
3-59705909-GC-G
MyVariant Identifiers:
chr3:g.59691636del (hg19)
chr3:g.59705910del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.59705910del , CM000665.2:g.59705910del
GRCh38
NC_000003.11:g.59691636del , CM000665.1:g.59691636del
GRCh37
NC_000003.10:g.59666676del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002959675.1:n.1218-103822del
Search 100 bp 5'
Search 100 bp 3'