ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2638669328
Gene:
Linked Data
gnomAD v4:
17-49995284-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.49995284C>T , CM000679.2:g.49995284C>T
GRCh38
NC_000017.10:g.48072648C>T , CM000679.1:g.48072648C>T
GRCh37
NC_000017.9:g.45427647C>T
NCBI36
NG_023063.1:g.4941G>A
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