ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2812704242
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60373263C>A , CM000680.2:g.60373263C>A
GRCh38
NC_000018.9:g.58040496C>A , CM000680.1:g.58040496C>A
GRCh37
NC_000018.8:g.56191476C>A
NCBI36
NG_016441.1:g.4506G>T
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