ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1112359082
Gene:
Linked Data
dbSNP Id:
rs1804829984
gnomAD v3:
8-30728125-C-T
gnomAD v4:
8-30728125-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.30728125C>T , CM000670.2:g.30728125C>T
GRCh38
NC_000008.10:g.30585642C>T , CM000670.1:g.30585642C>T
GRCh37
NC_000008.9:g.30705184C>T
NCBI36
NG_027719.1:g.4845G>A
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