ClinGen Allele Registry
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Canonical Allele Identifier:
CA75934178
Gene: CFAP20DC-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs1004519293
gnomAD v2:
3-59691552-C-A
gnomAD v3:
3-59705826-C-A
gnomAD v4:
3-59705826-C-A
MyVariant Identifiers:
chr3:g.59691552C>A (hg19)
chr3:g.59691552_59691553delinsAA (hg19)
chr3:g.59705826C>A (hg38)
chr3:g.59705826_59705827delinsAA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.59705826C>A , CM000665.2:g.59705826C>A
GRCh38
NC_000003.11:g.59691552C>A , CM000665.1:g.59691552C>A
GRCh37
NC_000003.10:g.59666592C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002959675.1:n.1218-103906C>A
Search 100 bp 5'
Search 100 bp 3'