ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2639095697
Gene:
Linked Data
gnomAD v4:
17-60149799-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.60149799T>C , CM000679.2:g.60149799T>C
GRCh38
NC_000017.10:g.58227160T>C , CM000679.1:g.58227160T>C
GRCh37
NC_000017.9:g.55581942T>C
NCBI36
NG_012050.1:g.4859T>C
NG_012050.2:g.4859T>C
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