ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2200448486
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.101277522C>G , CM000677.2:g.101277522C>G
GRCh38
NC_000015.9:g.101817727C>G , CM000677.1:g.101817727C>G
GRCh37
NC_000015.8:g.99635250C>G
NCBI36
NG_013322.1:g.4974G>C
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