ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA944247954
Gene:
Linked Data
dbSNP Id:
rs1484237194
gnomAD v3:
12-5047116-C-A
gnomAD v4:
12-5047116-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.5047116C>A , CM000674.2:g.5047116C>A
GRCh38
NC_000012.11:g.5156282C>A , CM000674.1:g.5156282C>A
GRCh37
NC_000012.10:g.5026543C>A
NCBI36
NG_012198.1:g.8198C>A
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