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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:
CA605683592
Gene:
Linked Data
dbSNP Id:
rs1341893155
gnomAD v2:
12-66394558-GTGTGTGTGTT-G
gnomAD v3:
12-66000778-GTGTGTGTGTT-G
gnomAD v4:
12-66000778-GTGTGTGTGTT-G
MyVariant Identifiers:
chr12:g.66394559_66394568del (hg19)
chr12:g.66000779_66000788del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.66000780_66000789del , CM000674.2:g.66000780_66000789del
GRCh38
NC_000012.11:g.66394560_66394569del , CM000674.1:g.66394560_66394569del
GRCh37
NC_000012.10:g.64680827_64680836del
NCBI36
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