ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2638676299
Gene:
Linked Data
gnomAD v4:
17-50211802-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50211806del , CM000679.2:g.50211806del
GRCh38
NC_000017.10:g.48289167del , CM000679.1:g.48289167del
GRCh37
NC_000017.9:g.45644166del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934838.1:n.43-2029del
Search 100 bp 5'
Search 100 bp 3'