ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2806926310
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.47835170T>C , CM000678.2:g.47835170T>C
GRCh38
NC_000016.9:g.47869081T>C , CM000678.1:g.47869081T>C
GRCh37
NC_000016.8:g.46426582T>C
NCBI36
Search 100 bp 5'
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