ClinGen Allele Registry
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Canonical Allele Identifier:
CA293056149
Gene: CASC17
HGNC
NCBI
Linked Data
dbSNP Id:
rs917181485
gnomAD v2:
17-69108404-A-T
gnomAD v3:
17-71112263-A-T
gnomAD v4:
17-71112263-A-T
MyVariant Identifiers:
chr17:g.69108404A>T (hg19)
chr17:g.71112263A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.71112263A>T , CM000679.2:g.71112263A>T
GRCh38
NC_000017.10:g.69108404A>T , CM000679.1:g.69108404A>T
GRCh37
NC_000017.9:g.66619999A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_104152.1:n.218-12645T>A
Search 100 bp 5'
Search 100 bp 3'