ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA983959638
Gene:
Linked Data
dbSNP Id:
rs2048637992
gnomAD v3:
17-43952593-C-T
gnomAD v4:
17-43952593-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.43952593C>T , CM000679.2:g.43952593C>T
GRCh38
NC_000017.10:g.42029961C>T , CM000679.1:g.42029961C>T
GRCh37
NC_000017.9:g.39385487C>T
NCBI36
NG_023338.1:g.56877G>A
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