ClinGen Allele Registry
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Canonical Allele Identifier:
CA2817478335
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.22259381del , CM000683.2:g.22259381del
GRCh38
NC_000021.8:g.23631701del , CM000683.1:g.23631701del
GRCh37
NC_000021.7:g.22553572del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754978.1:n.221+46568del
Search 100 bp 5'
Search 100 bp 3'