ClinGen Allele Registry
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Canonical Allele Identifier:
CA847190293
Gene: CASC11
HGNC
NCBI
Linked Data
dbSNP Id:
rs1305517957
gnomAD v3:
8-127705682-T-C
gnomAD v4:
8-127705682-T-C
MyVariant Identifiers:
chr8:g.128717927T>C (hg19)
chr8:g.127705682T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127705682T>C , CM000670.2:g.127705682T>C
GRCh38
NC_000008.10:g.128717927T>C , CM000670.1:g.128717927T>C
GRCh37
NC_000008.9:g.128787109T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_117102.1:n.366-2439A>G
Search 100 bp 5'
Search 100 bp 3'