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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:
CA858950983
Gene:
Linked Data
dbSNP Id:
rs1260641581
gnomAD v3:
9-114321450-TTTTG-T
gnomAD v4:
9-114321450-TTTTG-T
MyVariant Identifiers:
chr9:g.117083731_117083734del (hg19)
chr9:g.114321451_114321454del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.114321466_114321469del , CM000671.2:g.114321466_114321469del
GRCh38
NC_000009.11:g.117083746_117083749del , CM000671.1:g.117083746_117083749del
GRCh37
NC_000009.10:g.116123567_116123570del
NCBI36
NG_012108.1:g.3444_3447del
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