ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2638669382
Gene:
Linked Data
gnomAD v4:
17-49995335-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.49995335C>A , CM000679.2:g.49995335C>A
GRCh38
NC_000017.10:g.48072699C>A , CM000679.1:g.48072699C>A
GRCh37
NC_000017.9:g.45427698C>A
NCBI36
NG_023063.1:g.4890G>T
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