ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2502846999
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.14130442C>T , CM000686.2:g.14130442C>T
GRCh38
NC_000024.9:g.16242322C>T , CM000686.1:g.16242322C>T
GRCh37
NC_000024.8:g.14751716C>T
NCBI36
Search 100 bp 5'
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