ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2638669360
Gene:
Linked Data
gnomAD v4:
17-49995317-A-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.49995317A>G , CM000679.2:g.49995317A>G
GRCh38
NC_000017.10:g.48072681A>G , CM000679.1:g.48072681A>G
GRCh37
NC_000017.9:g.45427680A>G
NCBI36
NG_023063.1:g.4908T>C
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