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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:
CA168305940
Gene:
Linked Data
dbSNP Id:
rs11339378
gnomAD v2:
7-143741617-CT-C
gnomAD v3:
7-144044524-CT-C
gnomAD v4:
7-144044524-CT-C
MyVariant Identifiers:
chr7:g.143741618del (hg19)
chr7:g.144044525del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.144044532del , CM000669.2:g.144044532del
GRCh38
NC_000007.13:g.143741625del , CM000669.1:g.143741625del
GRCh37
NC_000007.12:g.143372558del
NCBI36
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