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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:
CA70041022
Gene:
Linked Data
dbSNP Id:
rs67382825
gnomAD v2:
3-10182230-CTTT-C
gnomAD v3:
3-10140546-CTTT-C
gnomAD v4:
3-10140546-CTTT-C
COSMIC:
COSN2535312
COSN18778699
MyVariant Identifiers:
chr3:g.10182233_10182235del (hg19)
chr3:g.10182231_10182233del (hg19)
chr3:g.10140549_10140551del (hg38)
chr3:g.10140547_10140549del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10140563_10140565del , CM000665.2:g.10140563_10140565del
GRCh38
NC_000003.11:g.10182247_10182249del , CM000665.1:g.10182247_10182249del
GRCh37
NC_000003.10:g.10157247_10157249del
NCBI36
NG_008212.3:g.3929_3931del , LRG_322:g.3929_3931del
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