ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA983959620
Gene:
Linked Data
dbSNP Id:
rs2048637658
gnomAD v3:
17-43952561-G-C
gnomAD v4:
17-43952561-G-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.43952561G>C , CM000679.2:g.43952561G>C
GRCh38
NC_000017.10:g.42029929G>C , CM000679.1:g.42029929G>C
GRCh37
NC_000017.9:g.39385455G>C
NCBI36
NG_023338.1:g.56909C>G
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