ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA291467971
Gene:
Linked Data
dbSNP Id:
rs748560329
gnomAD v2:
17-47564116-G-A
gnomAD v3:
17-49486754-G-A
gnomAD v4:
17-49486754-G-A
MyVariant Identifiers:
chr17:g.47564116G>A (hg19)
chr17:g.49486754G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.49486754G>A , CM000679.2:g.49486754G>A
GRCh38
NC_000017.10:g.47564116G>A , CM000679.1:g.47564116G>A
GRCh37
NC_000017.9:g.44919115G>A
NCBI36
Search 100 bp 5'
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