ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA291552695
Gene:
Linked Data
ClinVar Variation Id:
595705
ClinVar RCV Id:
RCV000731333
RCV000834549
RCV001517449
dbSNP Id:
rs113647555
gnomAD v2:
17-48279035-G-A
gnomAD v3:
17-50201674-G-A
gnomAD v4:
17-50201674-G-A
MyVariant Identifiers:
chr17:g.48279035G>A (hg19)
chr17:g.50201674G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50201674G>A , CM000679.2:g.50201674G>A
GRCh38
NC_000017.10:g.48279035G>A , CM000679.1:g.48279035G>A
GRCh37
NC_000017.9:g.45634034G>A
NCBI36
NG_007400.1:g.4966C>T , LRG_1:g.4966C>T
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