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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:
CA536784547
Gene:
Linked Data
dbSNP Id:
rs1322439811
gnomAD v2:
2-146071903-TGCAGAGTATGG-T
gnomAD v3:
2-145314335-TGCAGAGTATGG-T
gnomAD v4:
2-145314335-TGCAGAGTATGG-T
MyVariant Identifiers:
chr2:g.146071904_146071914del (hg19)
chr2:g.145314336_145314346del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.145314338_145314348del , CM000664.2:g.145314338_145314348del
GRCh38
NC_000002.11:g.146071906_146071916del , CM000664.1:g.146071906_146071916del
GRCh37
NC_000002.10:g.145788376_145788386del
NCBI36
Search 100 bp 5'
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