ClinGen Allele Registry
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Canonical Allele Identifier:
CA627480363
Gene: CASC17
HGNC
NCBI
Linked Data
dbSNP Id:
rs1206936739
gnomAD v2:
17-69108757-G-A
gnomAD v3:
17-71112616-G-A
gnomAD v4:
17-71112616-G-A
MyVariant Identifiers:
chr17:g.69108757G>A (hg19)
chr17:g.71112616G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.71112616G>A , CM000679.2:g.71112616G>A
GRCh38
NC_000017.10:g.69108757G>A , CM000679.1:g.69108757G>A
GRCh37
NC_000017.9:g.66620352G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_104152.1:n.218-12998C>T
Search 100 bp 5'
Search 100 bp 3'