ClinGen Allele Registry
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Canonical Allele Identifier:
CA543450133
Gene: CFAP20DC-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs1289213774
gnomAD v2:
3-59691397-C-T
gnomAD v3:
3-59705671-C-T
gnomAD v4:
3-59705671-C-T
MyVariant Identifiers:
chr3:g.59691397C>T (hg19)
chr3:g.59705671C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.59705671C>T , CM000665.2:g.59705671C>T
GRCh38
NC_000003.11:g.59691397C>T , CM000665.1:g.59691397C>T
GRCh37
NC_000003.10:g.59666437C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002959675.1:n.1218-104061C>T
Search 100 bp 5'
Search 100 bp 3'