ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2639095958
Gene:
Linked Data
gnomAD v4:
17-60149930-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.60149930C>A , CM000679.2:g.60149930C>A
GRCh38
NC_000017.10:g.58227291C>A , CM000679.1:g.58227291C>A
GRCh37
NC_000017.9:g.55582073C>A
NCBI36
NG_012050.1:g.4990C>A
NG_012050.2:g.4990C>A
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