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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:
CA2594789910
Gene:
Linked Data
dbSNP Id:
rs2113691738
gnomAD v3:
6-32690289-T-TAGTA
gnomAD v4:
6-32690289-T-TAGTA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32690289_32690290insAGTA , CM000668.2:g.32690289_32690290insAGTA
GRCh38
NC_000006.11:g.32658066_32658067insAGTA , CM000668.1:g.32658066_32658067insAGTA
GRCh37
NC_000006.10:g.32766044_32766045insAGTA
NCBI36
Search 100 bp 5'
Search 100 bp 3'