ClinGen Allele Registry
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Canonical Allele Identifier:
CA14436285
Gene:
Linked Data
dbSNP Id:
rs12950390
gnomAD v2:
17-45830948-T-C
gnomAD v3:
17-47753582-T-C
gnomAD v4:
17-47753582-T-C
MyVariant Identifiers:
chr17:g.45830948T>C (hg19)
chr17:g.47753582T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.47753582T>C , CM000679.2:g.47753582T>C
GRCh38
NC_000017.10:g.45830948T>C , CM000679.1:g.45830948T>C
GRCh37
NC_000017.9:g.43185947T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'