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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:
CA539146354
Gene:
Linked Data
dbSNP Id:
rs1559583632
gnomAD v2:
2-204701618-A-ATG
gnomAD v3:
2-203836895-A-ATG
gnomAD v4:
2-203836895-A-ATG
MyVariant Identifiers:
chr2:g.204701618_204701619insTG (hg19)
chr2:g.203836895_203836896insTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.203836896_203836897insGT , CM000664.2:g.203836896_203836897insGT
GRCh38
NC_000002.11:g.204701619_204701620insGT , CM000664.1:g.204701619_204701620insGT
GRCh37
NC_000002.10:g.204409864_204409865insGT
NCBI36
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