ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2628693730
Gene:
Linked Data
gnomAD v4:
15-58749986-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.58749986C>T , CM000677.2:g.58749986C>T
GRCh38
NC_000015.9:g.59042185C>T , CM000677.1:g.59042185C>T
GRCh37
NC_000015.8:g.56829477C>T
NCBI36
NG_033876.1:g.4993G>A
NG_033876.2:g.4722G>A
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