ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2638213123
Gene:
Linked Data
gnomAD v4:
17-44372174-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.44372174C>T , CM000679.2:g.44372174C>T
GRCh38
NC_000017.10:g.42449542C>T , CM000679.1:g.42449542C>T
GRCh37
NC_000017.9:g.39805068C>T
NCBI36
NG_008331.1:g.22332G>A , LRG_479:g.22332G>A
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