ClinGen Allele Registry
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Canonical Allele Identifier:
CA14425032
Gene: CASC17
HGNC
NCBI
Linked Data
dbSNP Id:
rs1859962
gnomAD v2:
17-69108753-G-T
gnomAD v3:
17-71112612-G-T
gnomAD v4:
17-71112612-G-T
MyVariant Identifiers:
chr17:g.69108753G>T (hg19)
chr17:g.71112612G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.71112612G>T , CM000679.2:g.71112612G>T
GRCh38
NC_000017.10:g.69108753G>T , CM000679.1:g.69108753G>T
GRCh37
NC_000017.9:g.66620348G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_104152.1:n.218-12994C>A
Search 100 bp 5'
Search 100 bp 3'