ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA918297585
Gene:
Linked Data
dbSNP Id:
rs1563550223
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.79191078del , CM000670.2:g.79191078del
GRCh38
NC_000008.10:g.80103313del , CM000670.1:g.80103313del
GRCh37
NC_000008.9:g.80265868del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745720.1:n.105+707del
Search 100 bp 5'
Search 100 bp 3'