ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2599887952
Gene:
Linked Data
gnomAD v3:
3-72266861-CA-C
gnomAD v4:
3-72266861-CA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.72266862del , CM000665.2:g.72266862del
GRCh38
NC_000003.11:g.72316013del , CM000665.1:g.72316013del
GRCh37
NC_000003.10:g.72398703del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940958.1:n.835+8246del
Search 100 bp 5'
Search 100 bp 3'