ClinGen Allele Registry
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Canonical Allele Identifier:
CA833583227
Gene:
Linked Data
dbSNP Id:
rs1393569594
MyVariant Identifiers:
chr7:g.13440074del (hg19)
chr7:g.13400449del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.13400451del , CM000669.2:g.13400451del
GRCh38
NC_000007.13:g.13440076del , CM000669.1:g.13440076del
GRCh37
NC_000007.12:g.13406601del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745097.1:n.147+90128del
Search 100 bp 5'
Search 100 bp 3'