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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:
CA992070292
Gene:
Linked Data
dbSNP Id:
rs1977891529
gnomAD v3:
18-77187871-T-TTGAGTG
gnomAD v4:
18-77187871-T-TTGAGTG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.77187873_77187874insAGTGTG , CM000680.2:g.77187873_77187874insAGTGTG
GRCh38
NC_000018.9:g.74899829_74899830insAGTGTG , CM000680.1:g.74899829_74899830insAGTGTG
GRCh37
NC_000018.8:g.73028817_73028818insAGTGTG
NCBI36
Search 100 bp 5'
Search 100 bp 3'