ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1004582997
Gene:
Linked Data
dbSNP Id:
rs1006638233
gnomAD v3:
1-94542444-C-T
gnomAD v4:
1-94542444-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.94542444C>T , CM000663.2:g.94542444C>T
GRCh38
NC_000001.10:g.95008000C>T , CM000663.1:g.95008000C>T
GRCh37
NC_000001.9:g.94780588C>T
NCBI36
NG_029366.1:g.4414G>A
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