ClinGen Allele Registry
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Canonical Allele Identifier:
CA585155594
Gene: CCDC26
HGNC
NCBI
Linked Data
dbSNP Id:
rs954356130
gnomAD v2:
8-130613468-C-T
gnomAD v3:
8-129601222-C-T
gnomAD v4:
8-129601222-C-T
MyVariant Identifiers:
chr8:g.130613468C>T (hg19)
chr8:g.129601222C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.129601222C>T , CM000670.2:g.129601222C>T
GRCh38
NC_000008.10:g.130613468C>T , CM000670.1:g.130613468C>T
GRCh37
NC_000008.9:g.130682650C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_130917.1:n.312+78706G>A
Search 100 bp 5'
Search 100 bp 3'