ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2579846535
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1295239C>T , CM000667.2:g.1295239C>T
GRCh38
NC_000005.9:g.1295354C>T , CM000667.1:g.1295354C>T
GRCh37
NC_000005.8:g.1348354C>T
NCBI36
NG_009265.1:g.4809G>A , LRG_343:g.4809G>A
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