ClinGen Allele Registry
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Canonical Allele Identifier:
CA2678611333
Gene:
Linked Data
gnomAD v4:
6-39048740-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.39048740C>A , CM000668.2:g.39048740C>A
GRCh38
NC_000006.11:g.39016516C>A , CM000668.1:g.39016516C>A
GRCh37
NC_000006.10:g.39124494C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'