ClinGen Allele Registry
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Canonical Allele Identifier:
CA627480305
Gene: CASC17
HGNC
NCBI
Linked Data
dbSNP Id:
rs1228366214
gnomAD v2:
17-69108458-A-G
gnomAD v3:
17-71112317-A-G
gnomAD v4:
17-71112317-A-G
MyVariant Identifiers:
chr17:g.69108458A>G (hg19)
chr17:g.71112317A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.71112317A>G , CM000679.2:g.71112317A>G
GRCh38
NC_000017.10:g.69108458A>G , CM000679.1:g.69108458A>G
GRCh37
NC_000017.9:g.66620053A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_104152.1:n.218-12699T>C
Search 100 bp 5'
Search 100 bp 3'