ClinGen Allele Registry
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Canonical Allele Identifier:
CA186000952
Gene: CCDC26
HGNC
NCBI
Linked Data
dbSNP Id:
rs1006401478
gnomAD v2:
8-130613630-C-G
gnomAD v3:
8-129601384-C-G
gnomAD v4:
8-129601384-C-G
MyVariant Identifiers:
chr8:g.130613630C>G (hg19)
chr8:g.129601384C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.129601384C>G , CM000670.2:g.129601384C>G
GRCh38
NC_000008.10:g.130613630C>G , CM000670.1:g.130613630C>G
GRCh37
NC_000008.9:g.130682812C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_130917.1:n.312+78544G>C
Search 100 bp 5'
Search 100 bp 3'