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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:
CA858951010
Gene:
Linked Data
dbSNP Id:
rs1171261341
gnomAD v3:
9-114321518-GCCATC-G
gnomAD v4:
9-114321518-GCCATC-G
MyVariant Identifiers:
chr9:g.117083799_117083803del (hg19)
chr9:g.114321519_114321523del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.114321519_114321523del , CM000671.2:g.114321519_114321523del
GRCh38
NC_000009.11:g.117083799_117083803del , CM000671.1:g.117083799_117083803del
GRCh37
NC_000009.10:g.116123620_116123624del
NCBI36
NG_012108.1:g.3497_3501del
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