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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:
CA923755256
Gene:
Linked Data
dbSNP Id:
rs2044922049
gnomAD v3:
Y-19304786-C-CCATTTT
gnomAD v4:
Y-19304786-C-CCATTTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.19304789_19304790insTTTCAT , CM000686.2:g.19304789_19304790insTTTCAT
GRCh38
NC_000024.9:g.21466675_21466676insTTTCAT , CM000686.1:g.21466675_21466676insTTTCAT
GRCh37
NC_000024.8:g.19926063_19926064insTTTCAT
NCBI36
Search 100 bp 5'
Search 100 bp 3'