ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2514400547
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.30728122G>A , CM000670.2:g.30728122G>A
GRCh38
NC_000008.10:g.30585639G>A , CM000670.1:g.30585639G>A
GRCh37
NC_000008.9:g.30705181G>A
NCBI36
NG_027719.1:g.4848C>T
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