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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:
CA689778983
Gene:
Linked Data
dbSNP Id:
rs1361366798
gnomAD v3:
12-52059511-TCA-T
gnomAD v4:
12-52059511-TCA-T
MyVariant Identifiers:
chr12:g.52453296_52453297del (hg19)
chr12:g.52059512_52059513del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.52059512_52059513del , CM000674.2:g.52059512_52059513del
GRCh38
NC_000012.11:g.52453296_52453297del , CM000674.1:g.52453296_52453297del
GRCh37
NC_000012.10:g.50739563_50739564del
NCBI36
Search 100 bp 5'
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