ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1010578457
Gene:
Linked Data
gnomAD v3:
1-192800600-AC-A
gnomAD v4:
1-192800600-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.192800601del , CM000663.2:g.192800601del
GRCh38
NC_000001.10:g.192769731del , CM000663.1:g.192769731del
GRCh37
NC_000001.9:g.191036354del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000429211.2:n.31del
Search 100 bp 5'
Search 100 bp 3'