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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:
CA575204301
Gene:
Linked Data
dbSNP Id:
rs1209784122
gnomAD v2:
7-67820049-CAA-C
gnomAD v3:
7-68355062-CAA-C
gnomAD v4:
7-68355062-CAA-C
MyVariant Identifiers:
chr7:g.67820050_67820051del (hg19)
chr7:g.68355063_68355064del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.68355074_68355075del , CM000669.2:g.68355074_68355075del
GRCh38
NC_000007.13:g.67820061_67820062del , CM000669.1:g.67820061_67820062del
GRCh37
NC_000007.12:g.67457997_67457998del
NCBI36
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