ClinGen Allele Registry
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Canonical Allele Identifier:
CA585077675
Gene: CASC11
HGNC
NCBI
Linked Data
dbSNP Id:
rs1251000067
gnomAD v2:
8-128717803-T-G
gnomAD v3:
8-127705558-T-G
gnomAD v4:
8-127705558-T-G
MyVariant Identifiers:
chr8:g.128717803T>G (hg19)
chr8:g.127705558T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127705558T>G , CM000670.2:g.127705558T>G
GRCh38
NC_000008.10:g.128717803T>G , CM000670.1:g.128717803T>G
GRCh37
NC_000008.9:g.128786985T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_117102.1:n.366-2315A>C
Search 100 bp 5'
Search 100 bp 3'