ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA290451591
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.39867188T>G , CM000679.2:g.39867188T>G
GRCh38
NC_000017.10:g.38023441T>G , CM000679.1:g.38023441T>G
GRCh37
NC_000017.9:g.35276967T>G
NCBI36
NG_029104.2:g.2001A>C
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