ClinGen Allele Registry
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Canonical Allele Identifier:
CA12944170
Gene: CASC11
HGNC
NCBI
Linked Data
dbSNP Id:
rs28526124
gnomAD v2:
8-128719982-T-C
gnomAD v3:
8-127707737-T-C
gnomAD v4:
8-127707737-T-C
MyVariant Identifiers:
chr8:g.128719982T>C (hg19)
chr8:g.127707737T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127707737T>C , CM000670.2:g.127707737T>C
GRCh38
NC_000008.10:g.128719982T>C , CM000670.1:g.128719982T>C
GRCh37
NC_000008.9:g.128789164T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_117102.1:n.366-4494A>G
Search 100 bp 5'
Search 100 bp 3'