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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:
CA1128333705
Gene:
Linked Data
dbSNP Id:
rs1829679741
gnomAD v3:
9-114321524-T-TG
gnomAD v4:
9-114321524-T-TG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.114321524_114321525insG , CM000671.2:g.114321524_114321525insG
GRCh38
NC_000009.11:g.117083804_117083805insG , CM000671.1:g.117083804_117083805insG
GRCh37
NC_000009.10:g.116123625_116123626insG
NCBI36
NG_012108.1:g.3502_3503insG
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