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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:
CA63882912
Gene:
Linked Data
ClinVar Variation Id:
7763
ClinVar RCV Id:
RCV000008204
dbSNP Id:
rs3834129
gnomAD v2:
2-202097531-TAGTAAG-T
gnomAD v3:
2-201232808-TAGTAAG-T
gnomAD v4:
2-201232808-TAGTAAG-T
MyVariant Identifiers:
chr2:g.202097532_202097537del (hg19)
chr2:g.201232809_201232814del (hg38)
PubMed:
PMID:17450141
PMID:18305469
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.201232809_201232814del , CM000664.2:g.201232809_201232814del
GRCh38
NC_000002.11:g.202097532_202097537del , CM000664.1:g.202097532_202097537del
GRCh37
NC_000002.10:g.201805777_201805782del
NCBI36
NG_007497.1:g.4352_4357del , LRG_34:g.4352_4357del
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