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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:
CA992070289
Gene:
Linked Data
gnomAD v3:
18-77187871-T-TCGTG
gnomAD v4:
18-77187871-T-TCGTG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.77187871_77187872insCGTG , CM000680.2:g.77187871_77187872insCGTG
GRCh38
NC_000018.9:g.74899827_74899828insCGTG , CM000680.1:g.74899827_74899828insCGTG
GRCh37
NC_000018.8:g.73028815_73028816insCGTG
NCBI36
Search 100 bp 5'
Search 100 bp 3'