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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:
CA41486661
Gene:
Linked Data
dbSNP Id:
rs10634531
gnomAD v2:
2-632789-C-CTTG
gnomAD v3:
2-632789-C-CTTG
gnomAD v4:
2-632789-C-CTTG
MyVariant Identifiers:
chr2:g.632789_632790insTTG (hg19)
chr2:g.632789_632790insTTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.632792_632794dup , CM000664.2:g.632792_632794dup
GRCh38
NC_000002.11:g.632792_632794dup , CM000664.1:g.632792_632794dup
GRCh37
NC_000002.10:g.622792_622794dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'