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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:
CA2606867665
Gene:
Linked Data
dbSNP Id:
rs2108483620
gnomAD v3:
3-186831768-CACTG-C
gnomAD v4:
3-186831768-CACTG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186831770_186831773del , CM000665.2:g.186831770_186831773del
GRCh38
NC_000003.11:g.186549559_186549562del , CM000665.1:g.186549559_186549562del
GRCh37
NC_000003.10:g.188032253_188032256del
NCBI36
Search 100 bp 5'
Search 100 bp 3'