ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2638669399
Gene:
Linked Data
gnomAD v4:
17-49995347-T-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.49995347T>G , CM000679.2:g.49995347T>G
GRCh38
NC_000017.10:g.48072711T>G , CM000679.1:g.48072711T>G
GRCh37
NC_000017.9:g.45427710T>G
NCBI36
NG_023063.1:g.4878A>C
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