ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1058845589
Gene:
Linked Data
dbSNP Id:
rs1722934284
gnomAD v3:
4-5711167-T-C
gnomAD v4:
4-5711167-T-C
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Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.5711167T>C , CM000666.2:g.5711167T>C
GRCh38
NC_000004.11:g.5712894T>C , CM000666.1:g.5712894T>C
GRCh37
NC_000004.10:g.5763795T>C
NCBI36
NG_008843.1:g.4971T>C
NG_015821.1:g.3382A>G
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