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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:
CA1012811646
Gene:
Linked Data
gnomAD v3:
1-224886999-A-AAATAT
gnomAD v4:
1-224886999-A-AAATAT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.224886999_224887000insAATAT , CM000663.2:g.224886999_224887000insAATAT
GRCh38
NC_000001.10:g.225074701_225074702insAATAT , CM000663.1:g.225074701_225074702insAATAT
GRCh37
NC_000001.9:g.223141324_223141325insAATAT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_949207.1:n.66-2219_66-2218insATATT
XR_949207.2:n.63-2219_63-2218insATATT
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