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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:
CA87622810
Gene:
Linked Data
dbSNP Id:
rs918051311
gnomAD v3:
3-169763812-TTA-T
gnomAD v4:
3-169763812-TTA-T
MyVariant Identifiers:
chr3:g.169481601_169481602del (hg19)
chr3:g.169763813_169763814del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169763817_169763818del , CM000665.2:g.169763817_169763818del
GRCh38
NC_000003.11:g.169481605_169481606del , CM000665.1:g.169481605_169481606del
GRCh37
NC_000003.10:g.170964299_170964300del
NCBI36
NG_016363.1:g.6247_6248del , LRG_347:g.6247_6248del
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