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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:
CA581328557
Gene:
Linked Data
dbSNP Id:
rs1289207575
gnomAD v2:
8-37096128-C-CT
gnomAD v3:
8-37238610-C-CT
gnomAD v4:
8-37238610-C-CT
MyVariant Identifiers:
chr8:g.37096128_37096129insT (hg19)
chr8:g.37238610_37238611insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.37238615dup , CM000670.2:g.37238615dup
GRCh38
NC_000008.10:g.37096133dup , CM000670.1:g.37096133dup
GRCh37
NC_000008.9:g.37215291dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'