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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:
CA173689897
Gene:
Linked Data
dbSNP Id:
rs759342090
gnomAD v2:
8-20592457-CAT-C
gnomAD v3:
8-20734946-CAT-C
gnomAD v4:
8-20734946-CAT-C
MyVariant Identifiers:
chr8:g.20592458_20592459del (hg19)
chr8:g.20734947_20734948del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.20734947_20734948del , CM000670.2:g.20734947_20734948del
GRCh38
NC_000008.10:g.20592458_20592459del , CM000670.1:g.20592458_20592459del
GRCh37
NC_000008.9:g.20636738_20636739del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_949569.3:n.72-55499_72-55498del
Search 100 bp 5'
Search 100 bp 3'