ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA983993951
Gene:
Linked Data
dbSNP Id:
rs2048501815
gnomAD v3:
17-44372133-C-T
gnomAD v4:
17-44372133-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.44372133C>T , CM000679.2:g.44372133C>T
GRCh38
NC_000017.10:g.42449501C>T , CM000679.1:g.42449501C>T
GRCh37
NC_000017.9:g.39805027C>T
NCBI36
NG_008331.1:g.22373G>A , LRG_479:g.22373G>A
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