ClinGen Allele Registry
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Canonical Allele Identifier:
CA1715429717
Gene:
Linked Data
dbSNP Id:
rs1788208544
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.69146942del , CM000669.2:g.69146942del
GRCh38
NC_000007.13:g.68611929del , CM000669.1:g.68611929del
GRCh37
NC_000007.12:g.68249865del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_927647.1:n.88-816del
Search 100 bp 5'
Search 100 bp 3'