ClinGen Allele Registry
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Canonical Allele Identifier:
CA276203
Gene:
Linked Data
ClinVar Variation Id:
209227
ClinVar RCV Id:
RCV000191170
dbSNP Id:
rs7223952
gnomAD v2:
17-41194885-T-C
gnomAD v3:
17-43042868-T-C
gnomAD v4:
17-43042868-T-C
MyVariant Identifiers:
chr17:g.41194885T>C (hg19)
chr17:g.43042868T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.43042868T>C , CM000679.2:g.43042868T>C
GRCh38
NC_000017.10:g.41194885T>C , CM000679.1:g.41194885T>C
GRCh37
NC_000017.9:g.38448411T>C
NCBI36
NG_005905.2:g.175116A>G , LRG_292:g.175116A>G
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