ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2606896456
Gene:
Linked Data
gnomAD v3:
3-187931700-AC-A
gnomAD v4:
3-187931700-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.187931702del , CM000665.2:g.187931702del
GRCh38
NC_000003.11:g.187649490del , CM000665.1:g.187649490del
GRCh37
NC_000003.10:g.189132184del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_924814.1:n.1213del
Search 100 bp 5'
Search 100 bp 3'