ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2693054765
Gene:
Linked Data
gnomAD v4:
X-8732190-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.8732190C>T , CM000685.2:g.8732190C>T
GRCh38
NC_000023.10:g.8700231C>T , CM000685.1:g.8700231C>T
GRCh37
NC_000023.9:g.8660231C>T
NCBI36
NG_007088.1:g.4997G>A
NG_007088.2:g.4997G>A
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