ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2638142643
Gene:
Linked Data
gnomAD v4:
17-43952731-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.43952731C>A , CM000679.2:g.43952731C>A
GRCh38
NC_000017.10:g.42030099C>A , CM000679.1:g.42030099C>A
GRCh37
NC_000017.9:g.39385625C>A
NCBI36
NG_023338.1:g.56739G>T
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