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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:
CA1139513198
Gene:
Linked Data
dbSNP Id:
rs2044105879
gnomAD v3:
Y-16776145-CATCT-C
gnomAD v4:
Y-16776145-CATCT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.16776163_16776166del , CM000686.2:g.16776163_16776166del
GRCh38
NC_000024.9:g.18888043_18888046del , CM000686.1:g.18888043_18888046del
GRCh37
NC_000024.8:g.17397437_17397440del
NCBI36
Search 100 bp 5'
Search 100 bp 3'