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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1054799338
Gene:
Linked Data
gnomAD v3:
3-149126722-ATAC-A
gnomAD v4:
3-149126722-ATAC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.149126723_149126725del , CM000665.2:g.149126723_149126725del
GRCh38
NC_000003.11:g.148844510_148844512del , CM000665.1:g.148844510_148844512del
GRCh37
NC_000003.10:g.150327200_150327202del
NCBI36
NG_009847.1:g.2140_2142del
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