ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2636331956
Gene:
Linked Data
gnomAD v4:
17-16972176-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.16972176C>A , CM000679.2:g.16972176C>A
GRCh38
NC_000017.10:g.16875490C>A , CM000679.1:g.16875490C>A
GRCh37
NC_000017.9:g.16816215C>A
NCBI36
NG_007281.1:g.4913G>T , LRG_120:g.4913G>T
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