ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2518750041
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.48212579A>C , CM000673.2:g.48212579A>C
GRCh38
NC_000011.9:g.48234131A>C , CM000673.1:g.48234131A>C
GRCh37
NC_000011.8:g.48190707A>C
NCBI36
Search 100 bp 5'
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