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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:
CA522300788
Gene:
Linked Data
dbSNP Id:
rs1300290321
gnomAD v2:
1-30431434-C-CCAA
gnomAD v3:
1-29958587-C-CCAA
gnomAD v4:
1-29958587-C-CCAA
MyVariant Identifiers:
chr1:g.30431434_30431435insCAA (hg19)
chr1:g.29958587_29958588insCAA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.29958590_29958592dup , CM000663.2:g.29958590_29958592dup
GRCh38
NC_000001.10:g.30431437_30431439dup , CM000663.1:g.30431437_30431439dup
GRCh37
NC_000001.9:g.30204024_30204026dup
NCBI36
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