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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:
CA525043253
Gene:
Linked Data
dbSNP Id:
rs964692589
gnomAD v2:
1-105227959-A-ATTTG
gnomAD v3:
1-104685337-A-ATTTG
gnomAD v4:
1-104685337-A-ATTTG
MyVariant Identifiers:
chr1:g.105227963_105227964insTTTG (hg19)
chr1:g.105227959_105227960insTTTG (hg19)
chr1:g.104685341_104685342insTTTG (hg38)
chr1:g.104685337_104685338insTTTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.104685353_104685356dup , CM000663.2:g.104685353_104685356dup
GRCh38
NC_000001.10:g.105227975_105227978dup , CM000663.1:g.105227975_105227978dup
GRCh37
NC_000001.9:g.105029498_105029501dup
NCBI36
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