ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2638669304
Gene:
Linked Data
gnomAD v4:
17-49995260-T-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.49995260T>G , CM000679.2:g.49995260T>G
GRCh38
NC_000017.10:g.48072624T>G , CM000679.1:g.48072624T>G
GRCh37
NC_000017.9:g.45427623T>G
NCBI36
NG_023063.1:g.4965A>C
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