ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2687149522
Gene:
Linked Data
gnomAD v4:
8-43140271-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.43140271C>T , CM000670.2:g.43140271C>T
GRCh38
NC_000008.10:g.42995414C>T , CM000670.1:g.42995414C>T
GRCh37
NC_000008.9:g.43114571C>T
NCBI36
NG_009552.1:g.4823C>T
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