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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:
CA605741661
Gene:
Linked Data
dbSNP Id:
rs1481063910
gnomAD v2:
12-68546389-AGCTATACGATAAGG-A
gnomAD v3:
12-68152609-AGCTATACGATAAGG-A
gnomAD v4:
12-68152609-AGCTATACGATAAGG-A
MyVariant Identifiers:
chr12:g.68546390_68546403del (hg19)
chr12:g.68152610_68152623del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.68152613_68152626del , CM000674.2:g.68152613_68152626del
GRCh38
NC_000012.11:g.68546393_68546406del , CM000674.1:g.68546393_68546406del
GRCh37
NC_000012.10:g.66832660_66832673del
NCBI36
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