ClinGen Allele Registry
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Canonical Allele Identifier:
CA2273427915
Gene: CASC17
HGNC
NCBI
Linked Data
dbSNP Id:
rs1907988214
gnomAD v3:
17-71112645-T-C
gnomAD v4:
17-71112645-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.71112645T>C , CM000679.2:g.71112645T>C
GRCh38
NC_000017.10:g.69108786T>C , CM000679.1:g.69108786T>C
GRCh37
NC_000017.9:g.66620381T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_104152.1:n.218-13027A>G
Search 100 bp 5'
Search 100 bp 3'