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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:
CA802056909
Gene:
Linked Data
ClinVar Variation Id:
639040
ClinVar RCV Id:
RCV003768483
dbSNP Id:
rs1219201829
gnomAD v3:
5-112707434-CGCCTGCGCATAACAG-C
gnomAD v4:
5-112707434-CGCCTGCGCATAACAG-C
MyVariant Identifiers:
chr5:g.112043132_112043146del (hg19)
chr5:g.112707435_112707449del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.112707437_112707451del , CM000667.2:g.112707437_112707451del
GRCh38
NC_000005.9:g.112043134_112043148del , CM000667.1:g.112043134_112043148del
GRCh37
NC_000005.8:g.112071033_112071047del
NCBI36
NG_008481.4:g.19917_19931del , LRG_130:g.19917_19931del
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