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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:
CA2141801117
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.62501605_62501606delinsGA , CM000676.2:g.62501605_62501606delinsGA
GRCh38
NC_000014.8:g.62968323_62968324delinsGA , CM000676.1:g.62968323_62968324delinsGA
GRCh37
NC_000014.7:g.62038076_62038077delinsGA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943932.1:n.116-2436_116-2435delinsGA
XR_943932.2:n.103-2436_103-2435delinsGA
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